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MARTIN CHAPTER 31 - CONGENITAL ANOMALIES

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Four clinically significant types of birth defects:
1. Malformation
2. Deformation
3. Disruption
4. Dysplasia
Malformation
•primary structural defect in tissue formation (neural tube defect, congenital heart defect) due to chromosomal abnormality of a gamete at fertilization
•an intrinsically abnormal developmental process that results in a morphologic defect in all or part of an organ or a larger region of the body that results in complex or multiple malformations.
•cause nearly 98% of congenital anomalies
•implies an abnormal morphogenesis (movements of early embryonic cells) of the underlying tissue caused by genetic or teratogenic factor
Deformation
•abnormal mechanical forces acting on normal tissues (intrauterine constraint on the growing fetus)
•maternal factors: breech or abnormal positioning, oligohydramnios, uterine anomalies
•clubfoot and altered head shape common OR meningomyelocele produces intrinsic functional disturbances that -> fetal deformation.
•if happens late in gestation it is often reversible with changes in position or removal of the force
•OB to monitor fetal positioning, movement, fluid volume
Disruption
•the destruction or interruption of intrinsically normal tissue, usually affects a body part rather than specific organ
•due to an extrinsic breakdown of or interference with an originally normal developmental process. AKA: a morphologic change after exposure to a teratogen (drugs or viruses). A disruption cannot be inherited but, inherited factors can predispose and influence the development of a disruption.
•vascular occlusion and amniotic bands most common
•monozygotic twinning and prenatal cocaine exposure are common predisposing factors due to vascular interruption
Dysplasia
an abnormal organization of cells and its morphologic results (ie.: congenital ectodermal dysplasia). Dysplasia is the process and consequence of dyshistogenesis (abnormal tissue formation); it is nonspecific and often affects several organs.
Malformations may predispose infant to additional deformations and multiple anomalies:
neural tube defect -> fetal deformations of hip dislocation and clubfoot -> lack of movement below level of lesion
Sequence:
pattern of multiple anomalies derived from a single known or presumed cause (initial factor -> cascade)
the oligohydramnios sequence (Potter syndrome):
limb deformations, pulmonary hypoplasia, and Potter facies of beaked nose, infraorbital creases, simple ears; due to lack of amniotic fluid, secondary to chronic leakage or lack of fetal urine (renal agenesis, a malformation)
Pierre Robin sequence:
micrognathia, cleft palate, glossoptosis; disproportionately small, malformed mandible causes the tongue to move backward and upward in the oral cavity during development, resulting in cleft palate and potential airway obstruction
Association:
nonrandom occurrence of multiple malformations for which no specific or common etiology has been identified
VATER or VACTERL association:
vertebral anomalies, anal atresia, cardiac anomalies, tracheoesophageal fistula, and renal and radial (limb) dysplasia; several conditions (maternal diabetes) found in conjunction with but no specific genetic link proved
Syndrome:
a recognizable pattern of anomalies with a specific, usually heritable, cause
CHARGE Syndrome:
coloboma, heart anomalies, choanal atresia, restriction of growth and development, genital and ear anomalies; mutations in the CHD7 gene found to be causative in over half of affected children
Holt-Oram Syndrome:
radial dysplasia and cardiac defects; autosomal dominant TBX5 gene
Cornelia de Lange Syndrome:
growth failure, microcephaly, limb anomalies, characteristic facial dysmorphisms; NIPBL gene
Complex or Multifactorial
-86% of malformations are isolated
-the most common and familiar birth defects fall into this category (congenital heart defects, neural tube defects, cleft lip and palate, clubfoot, congenital hip dysplasia)
-Multifactorial Inheritance (Complex Inheritance): one or more genetic susceptibility factors combine with environmental factors and random developmental events
-Multiple genetic components are involved
-Epidemiologic studies have demonstrated that neural tube defects are associated with many maternal factors, such as hyperthermia, glucose levels, and folate intake
Single Gene (Mendelian)
-0.4% of malformations
-Single minor defects are present in 14% of neonates (most commonly ears, indicate possible presence of associated major defects OR single umbilical artery = possible cardiac or renal defect)
-most common mode is autosomal dominant, with minority being autosomal recessive, or rarely X-linked genes
-limb anomalies (postaxial polydactyly, syndactyly, and bracydactyly) most prevalent localized malformations - FREQUENTLY THE RESULT OF A DOMINANT GENE
-related to the dysfunction of the gene or the disruption of the developmental pathway
-Smith-Lemli-Opitz: autosomal recessive; genital abnormalities, syndactyly of the 2nd and 3rd toes, ptosis, wide alveolar ridges, hypotonia, inverted nipples, abnormal fat distribution; deficiency of the enzyme 7-dehydrocholesterol reductase in the cholesterol biosynthesis pathway
Chromosomal
-accounts for 10% of all major congenital malformations
-Torchia states that genetic factors cause ~ 1/3 of all defects
-Can be a numerical (d/t nondisjunction, ie.: error in cell division) or a structural change in the chromosome and affect either the sex chromosomes (XX or XY) and/or the autosomes (22 pairs)
-Phenotype: the morphologic characteristics of a specific chromosome abnormality
-most prevalent is Down Syndrome (Trisomy 21), occurs in 1/660 births
-Trisomy 18 and Trisomy 13 each occur in 1/10000 births
-All 3 autosomal trisomies and the sex chromosome aneuploidies (Klinefelter/47XXY and Triple X/47XXX) occur more frequently with increased maternal age
-0.6% of newborns have a chromosomal anomaly, but the abnormality is not detectable by physical exam in 66% of them (ex: aneuploidies of sex chromosomes such as Klinefelters/47 XXY and Triple X/47 XXX); the phenotype develops over time
-Turner Syndrome/45X: present in 1/5000 FEMALE births, detectable prenatally
standard karyotype testing -
determines gain or loss of extra chromosome, identify translocations, inversions, ring chromosomes, marker chromosomes, and deletions
molecular gene based testing:
test a specific gene; in infants with unexplained hypotonia and contractures DNA testing may show an expansion in the myotonic dystrophy gene or mutations in the spinal muscular gene; 50% of infants with Pierre Robin sequence will have gene mutations in the collagen genes (COL11A1, COL11A2, or COL2A1) causing the autosomal dominant Stickler syndrome, or deletion in 22q11/velocardiofacial/DiGeorge syndrome
Fluorescence in situ hybridization (FISH) -
uses fluorescently labeled DNA probes that identify deletions in specific locations on the chromosome metaphase spread (22q11 deletion syndrome/velocardiofacial/DiGeorge syndrome and Williams Syndrome/long arm of chromosome 7)
Fluorescence in situ hybridization (FISH):
FISH, when high level of suspicion for a known microdeletion syndrome such as 22q11 deletion/velecardiofacial/DiGeorge syndrome or Williams syndrome; indicated for all patients with truncus arteriosus, interrupted aortic arch, TET. Submicroscopic chromosome deletion or duplication identification that uses chromosome-specific DNA probes to identify chromosome location and number.
microarray -
targets known microdeletion syndromes, subtelomers, and pericenteric regions, and is more sensitive than standard karyotype
CMA (chromosomal microarray):
1st line genetic test in babies with multiple anomalies; allows for detection of deletions and duplications too small to be seen in high resolution chromosome analysis
CMA can identify
"copy number variants" that may or may not be associated with the phenotype of the neonate; recommend parental samples to determine whether the copy number variant occurred de novo or is inherited from a normal parent
Karyotype first-line for
suspected aneuploidy (trisomies 21, 18, 13 and Turner and Klinefelter) and in cases of ambiguous genitalia due to rapid turnaround and low cost
biochemical testing:
definitive diagnosis for Smith-Lemli-Opits syndrome made by obtaining a low serum cholesterol level and an elevated 7-dehydrocholesterol level; congenital disorders of glycosylation (autosomal recessive) diagnosed by serum transferrin glycoform analysis.
Comparative genomic hybridization (CGH):
used to evaluate pts with previously unexplained mental deficiency, autism, or congenital anomalies. ability to screen an entire genome of DNA for sequence copy number changes
Teratogen:
anything external to fetus that causes structural or functional disability in prenatal or postnatal life; can be drugs (thalidomide) and chemicals, altered metabolic states in the mother, infectious agents (rubella, HSV, Varicella), or mechanical forces. - exposure usually 2-12 weeks of gestation.
with only a few exceptions, teratogenic agents do not
affect every exposed infant (maybe due to genetic susceptibility factors; dose and timing)
most common teratogen
Alcohol - alcohol carries serious risk at any time because the CNS continues to develop throughout pregnancy
chronic alcohol use:
increased perinatal mortality, IUGR, cardiac defects, microcephaly, short palpebral fissures
long term effects of exposure to alcohol:
mental retardation and behavioral problems
__________are also common teratogen
Anticonvulsants
Diabetes Mellitus (altered metabolic state) -
2-3 times the risk for cogential heart defects, caudal regression and sacral dysgenesis, and CNS abnormalities; risk is lower in infants born to mothers with better control of blood sugars
Untreated Phenylketonuria -
elevated levels cause microcephaly, growth delay, cardiac and neurologic abnormalities
TORCH (toxoplasmosis, other agents including syphilis, rubella, cytomegalovirus, herpes simplex) -
consider in infants with IUGR, microcephaly, chorioretinitis, intracranial calcification, micropthalmia, cataracts, hearing loss; confirm diagnosis by antibody studies/imaging studies/ophthalmic examination
Unknown (genetic & environmental factors acting together)
-66% of malformations have no recognized etiology (50-60%)
-polygenic/multifactorial (gene/environment interactions), spontaneous errors of development
-folic acid - decrease risk for neural tube defects
Anomalies in Aborted Fetuses
-localized and single anomalies: neural tube defects, cleft lip or palate, cloacal exstrophy are common in spontaneously aborted newborns
-multiple congenital anomalies are also common
-50% of all pregnancy loses before 20 weeks gestation have an underlying chromosomal abnormality
-most common single chromosomal abnormality is 45 X, followed by triploidy
-the trisomies account for more than 50% of all chromosomally abnormal pregnancy losses
-trisomy 16 accounts for 1/3 (lethal to the fetus)
-unbalanced translocations account for 2-4% of all chromosomally abnormal fetuses, and are 3-6 times more frequent in aborted fetuses
Minor Anomalies and Phenotypic Variants
-may be part of a characteristic pattern of malformations and may provide clues to diagnosis (phenotype)
-most frequent in areas of complex and variable features, such as face and distal extremities
-most common features: lack of helical fold of the pinna and complete or incomplete single transverse palmar crease patterns
-typical single transverse palmar crease occurs in 3% of normal newborns; appears in 45% of babies with trisomy 21
-4% of population: folded over helix of the pinna and cerulean spots in blacks or Asians
Racial and Ethnic Differences
-African Americans: postaxial polydactyly
-White: hypospadias, clubfoot
-Brushfield spots: common in whites, rare in African Americans
-Umbilical Hernias: common in African Americans, infrequent in whites
-Cerulean spots: 50% of African American or Asian infants, but only 0.2% of whites
-Hispanic: higher prevalence of neural tube defects, gastroschesis, trisomy 21
Patient and Family History
goal is to identify a possible genetic predisposition, environmental factor, or clue to the anomaly
-obtain detailed 3-4 generation family history; form of a pedigree; squares for males; circles for females; horizontal lines indicate genetic union; vertical lines indicate genetic descent; note all abortions and stillbirths; ask about possible parental consanguinity (ask if parents are related in any way)
-document presence of congenital anomalies in other relatives; chart the maternal and paternal ages of those affected
-pedigree should include minimum of all siblings, parents, aunts, uncles, cousins, grandparents
-if dominant or X linked disorders, more extensive pedigree needed
cutis maromata or livedo reticularis:
marbling pattern; normal infant skin when exposed to cold; in rare cases can be unusually prominent and familial; autosomal dominant; trisomy 21, hypothyroidism, Cornelia de Lange
Café au lait spots:
neurofibromatosis; may be isolated in darkly pigmented infants
Hypopigmented macules:
may be earliest manifestation of tuberous sclerosis
multiple irregular pigmented lesions arranged in whorls:
suggestive of incontinentia pigmenti (usually presents initially with a vesivular rash)
angiomatous patch over one side of the face:
may be isolated, but may be Sturge-Weber syndrome
more than one skin hemangioma:
should raise suspicion of internal vascular lesions
generalized edema:
consider Turner syndrome, trisomy 21, Noonan syndrome
thick, coarse skin:
characteristic of Costello syndrome
abnormal distribution of fatty tissue:
congenital disorders of glycosylation
- sparse hair:
characteristic of an ectodermal dysplasia
- generalized hirsutism:
typical of Cornelia de Lange, fetal hydantoin syndrome, fetal alcohol syndrome, trisomy 18; can be Ethnic (Hispanic, Middle Eastern, American Indian) or a familial characteristic
- abnormal scalp hair patterns:
may reflect underlying brain abnormalities
- microcephaly:
lack of the normal parietal whorl, or the whorl may be displaced more centrally or posteriorly; and the frontal hair may show a prominent upsweep
- low posterior hairline:
occurs with short webbed neck, Turner syndrome or Noonan syndrome
- punched out scalp lesions in parietal occipital area (aplasia cutis congenital):
typical of trisomy 13; can be isolated or familial
- macrocephaly:
as an isolated anomaly is often familial and autosomal dominant; can also be manifestation of several disorders such as hydrocephaly, achondroplasia, PTEN hamartoma tumor syndrome (overgrowth syndrome)
- microcephaly:
can be familial either autosomal dominant or recessive; more commonly manifestation of syndrome that results in mental retardation
- large fontanelles:
occur in hypothyroidism; trisomies 21, 18, and 13; Zellweger syndrome (peroxisomal disorders); inmany bone disorders such as hypophosphatasia and cleidocranial dystosis
- small anterior fontanel:
sign of failure of normal brain growth
- dolichocephaly:
increase in anteroposterior diameter; premature infants; trisomy 18; hypotonic infants
- brachycephaly:
decrease in anteroposterior diameter; many Asian and American Indian infants
- craniosynostosis:
premature fusion of cranial sutures
- plagiocephaly:
torticollis or abnormal mechanical forces in utero
- frontal bossing:
frequent in some skeletal dysplasias such as achondroplasia and hydrocephaly
- hypotelorism:
eyes unusually close together; often associated with holoproscencephaly (major malformation of CNS associated with severe disturbance of brain function and early death; can be isolated or can be part of trisomy 13)
- hypertelorism:
eyes too far apart; frontonasal dysplasia; less likely to be related to an underlying brain malformation
- telecanthus:
increase in the inner canthal distance; may occur in the absence of hypertelorism such as in Waardenburg syndrome type I
- other factors that create illusion of hypertelorism:
epicanthal folds and a flat nasal bridge
- epicanthal folds:
may be present in normal newborns; characteristic in trisomy 21; occur in many other malformation syndromes htat have a flat nasal bridge
- upward slant of palpebral fissure:
trisomy 21
- downward slant of palpebral fissure:
mandibulofacial dystocias and Noonan syndrome
- short palpebral fissures:
can occur in micropthalmia; characteristic of fetal alcohol syndrome and trisomy 18
- coloboma:
defect in the normal continuity of structure of the eye; may involve the eyelid margin as seen in Treacher Collins syndrome; or the iris and retina such as in CHARGE syndrome
- synophrys:
fusion of the eyebrows in the midline is common in hirsute infants; may be familial; strongly associated with Cornelia de Lange
- preauricular tags:
may be isolated or associated with other abnormalities of pinna
- low set ears:
when the helix joins the head below the horizontal plane passing through the outer canthus perpendicular to the vertical axis of the head; MUST assess with the head in vertical alignment with body because anterior rotation of the head can create illusion of low set ears; placement of the ears can be a function of head shape and jaw size and not indication of instrinsic anomaly of the ear
- posteriorly rotated ears:
vertical axis of ear deviates more than 10 degrees from the vertical axis of the head; often associated wit low set ears; represents a lag in normal ascent of the ear during development; tape used to secure ETT or NG/OG tubes can dive false impression
- hemifacial microsomia:
severely malformed pinna and absent ear canal, hearing loss likely
- any significant abnormality of external ear may be indication of
additional anomalies of middle or inner ear and may be associated with hearing loss; EARLY HEARING ASSESSMENT INDICATED
- Hallerman-Streiff syndrome:
nose is unusually thin with hypoplastic alae nasi
- frontonasal dysplasia:
nose is unusually broad
- depressed nasal bridge with an upturned nose:
occurs in many skeletal dysplasias (achondroplasia); when depression is severe the nostrils may appear to be anteverted and the nose may appear shortened
- hypoplastic nose:
often syndromic
- nose with a single nostril:
highly suggestive of holoprosencephaly
- Microstomia:
small mouth, trisomy 18
- Macrostomia:
large mouth, may be present in mandibulofacial dystocias (Treacher Collins syndrome); severe macrostomia may result from a lateral facial cleft
- corners of mouth down turned:
Prader-Willi syndrome and other conditions with hypotonia
- assymmetric face during crying:
occurs with congenital deficiency in the depressor anguli oris on one side; may be associated with other abnormalities such as hemifacial macrosomia and 22q11deletion/velocardiofacial/DiGeorge syndrome
- prominent full lips:
Williams syndrome
- thin upper lip:
Cornelia de Lange, fetal alcohol syndrome
- cleft upper lip:
usually lateral, occurs in the position of one of the philtral ridges
- pits in the lower lip associated with a cleft lip or palate:
suggestive of Van der Woude syndrome; inherited autosomal dominant
- median cleft lip:
very suggestive of holoprosencephaly
- evaluate infants with clefts carefully because they may have
other associated malformations and relatively high genetic risk for recurrence
- isolated cleft palate:
mild forms have submucosal clefts, pharyngeal incompetence with nasal speech (velopharyngeal insufficiency), and bifid uvula; a high arched palate may occur normally, but is also a feature of many syndromes (especially if hypotonia or another long-standing neurologic abnormality is present)
- Smith-Lemli-Opitz syndrome:
hypertrophied alveolar ridges in palate along the inner margin of the teeth
- macroglossia:
may be relative, as in the Pierre Robin malformation sequence, in which primary malformation is mandibular hypoplasia; in hypothyroidism, Beckwith-Wiedemann syndrome, and trisomy 21 the tongue protrudes and is enlarged
- cleft or irregular tongue or oral frenula:
occurs in orafaciodigital syndrome
- Malar hypoplasia:
hypoplastic maxilla, decreases prominence of the upper cheeks
- Klippel-Feil anomaly:
short neck, limitation of rotation, fusion of cervical vertebrae
- Excessive skin folds:
Noonan, Turner, trisomy 21; represents the resolution of a cystic hygroma that was present prenatally
- unusually small thoracic cage:
skeletal dysplasia such as thanatophoric dysplasia or Jeune asphyxiating thoracic dystrophy
- unusually short sternum:
trisomy 18
- sternum altered in shape:
pectus excavatum or pectus carinatum; seen in variety of skeletal dysplasias and connective tissue disorders
- oomphalocele (abdominal contents through umbilical opening):
may be part of Beckwith-Weidemann syndrome, trisomy 13
- gastroschesis (abdominal contents protrude through the periumbilical abdominal wall):
usually an isolated disruption
- inguinal or umbilical hernia:
occur in normal infants; more frequent in various syndromes, particularly in connective tissue disorders
- imperforate or displaced anus:
may be isolated; mildest expression of a caudal regression sequence in which other anomalies such as sacral agenesis are seen; most commonly part of a group of anomalies (VATER or VACTERL); can also be seen as part of diabetic embryopathy
-hypogenitalism:
can be seen in association with hypotonia in Prader-Willi syndrome or with low-set dysplastic ears, syndactyly of the toes, and thickened alveolar ridges in Smith-Lemli-Opitz syndrome
genital ambiguity:
associated with renal anomalies and an increased risk of Wilms tumor in Denys-Drash syndrome
virilization:
may be associated with 21-hydroxylase deficiency, requires urgent management of adrenal insufficiency
neural tube defects:
abnormality of CNS and associated bony structure
minor external anomalies, particularly of lower spine:
include unusual pigmentary lesions, hair tufts, dimples, sinuses
hair tufts and sinuses above the gluteal cleft:
can be indication of a significant deeper anomaly, need MRI
look at where fingertips are in relation to the thighs when the UE are adducted alongside the body
...
in normal infant,
the fingertips fall below the hip joint in the midthigh region
long extremities:
Marfan syndrome, homocystinuria; fingertips may reach knees
short extremities:
skeletal dysplasias, most common achondroplasia; fingertips align with the hip joints or above
can also determine the ratio of the upper segment to the lower segment;
lower segment is distance from pubis to the heel with the leg fully extended; subtract the lower segment from the total length, gives you the upper segment; in normal newborns the ratio is about 1.7 and decreases to about 1.0 in the adult
short ratio:
suggests relative shortening of the extremities
low ratio:
implies either unusually long extremities or a foreshortened trunk (spondyloepiphyseal dysplasia)
paired extremities may be asymmetric in length or overall size:
suggests atrophy of one or hypertrophy of the other
hypertrophy of limbs:
Beckwith-Weidemann syndrome, Klippel-Trenaunay-Weber syndrome
isolated hemiatrophy:
may occur with long-standing corticospinal tract damage such as in Russell-Silver syndrome
hemihyperplasia:
important to identify because these infants are at increased risk for intra-abdominal tumors, such as Wilms tumor
rhizomelia:
proximal shortening of the limbs, achondroplasia
mesomelia:
shortening of the middle segment
acromelia:
relative shortening of the hands or feet
thanatophoric dysplasia:
shortened forearm with the secondary prominence of skinfolds
normal hand:
2 deep transverse palmar creases that do not completely cross palm
trisomy 21:
single transverse palmar crease; may be completely transverse across the palm or may be bridged or incomplete; may be more apparent when palm slightly flexed
hypoplastic middle phalanx:
single phalangeal crease on the 5th finger, instead of the normal 2, results in clinodactyly (incurving of the digit); frequently seen in trisomy 21
sandal pattern of deep furrows:
typical of mosaic trisomy 8
increased separation of the 1st and 2nd toes and prominent interdigital furrow:
trisomy 21
lymphedema:
enlarged hands and feet; characteristic of Turner and Noonan; dorsum of hands and feet have puffy appearance
congenital lymphedema:
can be autosomal dominant
rocker bottom feet:
prominent heel and loss of normal concave longitudinal arch of the sole; trisomy 18
acheiria:
absence of an entire hand
acheiropodia:
absence of both hands and feet
ectrodactyly:
partial or total absence of the distal segments of a hand or foot, with the proximal segments of the limbs are more or less normal
lobster claw anomaly:
split hand/split foot, central rays are deficient, often fusion of remaining digits; may be seen in isolation; can be autosomal dominant
Blood dyscrasias such as Fanconi anemia and thrombocytopenia absent radius (TAR) syndrome:
commonly involve radial deficiency
polydactyly:
partial or compelte supernumerary digits; one of most common limb malformation, as an isolated anomaly it is inherited as autosomal dominant
postaxial polydactyly:
more frequent than preaxial, particularly in African Americans; trisomy 13, chondroectodermal dysplasia, Meckel-Gruber syndrome, Bardet-Biedel syndrome
preaxial polydactyly:
characteristic of Carpenter syndrome and Majewski short rib-polydactyly syndrome
syndactyly:
fusion of the digits; usually cutaneous but may involve bone, autosomal dominant trait with variable expressivity and incomplete penetrance
minimal syndactyly of the second and third toes:
common in normal newborns
more extensive syndactyly:
can be seen in trisomy 21 and Smith-Lemli-Opitz syndrome; often part of a syndrome including come of the craniosynostosis conditions (Apert and Pfieffer syndromes)
brachydactyly:
shortening of one or more digits due to anomalous development of any of the phalanges, metacarpals, or metatarsals; inherited as autosomal dominant; component of numerous disorders such as achondroplasia and Albright hereditary osteodystrophy and trisomy 21
arachnodactyly:
unusually long, spider-like digits; characteristic in Marfan syndrome and homocystinuria
how to measure brachydactyly and arachnodactyly:
ratio of middle finger to total hand length, which is normally about 0.42 in the newborn
arthrogryposis:
multiple congenital contractures, most often sporadic, may be associated with oligohydramnios or underlying neuromuscular abnormality (spinal muscular atrophy)
joint hypermobility:
frequent in connective tissue disorders (Marfan and Ehlers-Danlos) and Kabuki syndrome
clinodactyly:
incurving of 5th digit, trisomy 21, incurving of 4th and 5th fingers radially and second finger in an ulnar direction, trisomy 18, less often trisomy 13
camptodactyly:
irreducible flexion of the digits, usually the 5th finger; autosomal dominant; trisomy 8, trisomy 10q, Freeman-Sheldon syndrome
Trisomy 21:
AV canal, hypotonia, palpebral fissures that slant upward, small squared ears, 5th finger clinodactyly
ophthalmology evaluation:
useful in diagnosing anomalies if brain malformations or neurologic abnormalities present - perform if small genitalia present in a male (septo-optic dysplasia) or CHARGE syndrome
ambiguous genitalia:
chromosomes to determine genotypic sex, pelvic US to identify internal genitalia, endochrine testing (17-OH progesterone, testosterone, luteinizing hormone, follicle stimulating hormone) - DEFER ASSIGNMENT OF SEX UNTIL TEST COMPLETE AND UROLOGIST HAS EVALUATED BABY
Genetic Counseling
-include a description of abnormality, the natural history, associated abnormalities, prognosis, etiology, whether genetic or nongenetic, reassure not fault of parents, information about recurrence risk
-can offer analysis of pedigree
Cystic fibrosis
genetic condition caused by mutations in the CFTR gene, alteration in Na transport of the cells in the lungs, pancreas and other organs, salt trapped in cells, body compensates by overproducing secretions, autosomal recessive pattern, parents of affected child must both be carriers
Symptoms of CF in infant
Meconium ileus smelly, greasy, frequent stools; persistent diarrhea, chronic cough, wheezing, pneumonia, abdominal distention, vomiting, dehydration
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