Congenital malformations - Edocr

CHAPTER 8 HYDROCEPHALUS 63
TABLE 8-1 Syndromes Associated with Hydrocephalus
Syndrome Other Features Etiology
Achondroplasia Skeletal dysplasia with proximal Autosomal dominant
limb shortening; prominent
FGFR3 gene
forehead; depressed nasal bridge; 4p16.3
large head. Findings can be subtle
in the neonate.
Amniotic band syndrome Facial clefts; amputation type defects Amnion disruption with
of limbs or digits, often accompanied mechanical disruption
by annular constrictions.
of fetal structures by
amnion adhesion or
fibrous amniotic
bands
Cytomegalovirus Intrauterine growth retardation; microcephaly; Cytomegalovirus
infection, congenital deafness; chorioretinitis infection in utero
MASA syndrome Mental retardation; adducted thumbs; X-linked recessive
agenesis of corpus callosum; spastic LICAM gene
paralysis; increased incidence of stillbirth Xq28
Microphthalmia—linear Microphthalmia; linear dermal aplasia Chromosome deletion
skin defects syndrome of head and neck; septum pellucidum del Xp22.3 lethal in
cyst; absent corpus callosum
males
Noonan syndrome Short stature; ptosis; hypertelorism; Autosomal dominant
low set/abnormal ears; short/webbed PTPN11
neck; pectus excavatum; dysplastic 12q24.1 (50% of cases)
pulmonic valve; hypertrophic
SOS1 or KRAS
cardiomyopathy; mild mental
retardation in 25%
Oral-facial-digital Median cleft/notched lip; multiple oral X-linked dominant,
syndrome, type I frenula; lobulated tongue; short fingers male lethal
with syndactyly; porencephaly; hypoplastic Xp22.3-p22.2
cerebellar vermis; Dandy-Walker cyst;
agenesis of corpus callosum
Oral-facial-digital Short stature; hypertelorism; bifid nasal tip; Autosomal recessive
syndrome, type II
cleft tongue; cleft palate; short fingers
with syndactyly; polydactyly; agenesis of
corpus callosum
Toxoplasmosis, Intrauterine growth retardation; intracranial Prenatal infection with
congenital calcifications; chorioretinitis; deafness toxoplasma gondii
Triploidy Severe intrauterine growth retardation; Chromosome anomaly
syndactyly; congenital heart defects 69, XXY or 69, XXX
VATER or VACTERL Vertebral anomalies; anal atresia; cardiac Sporadic; etiology
syndrome defects; tracheo-esophageal fistula; unknown
renal anomalies; limb defects
Walker-Warburg Agyria; Dandy-Walker malformation; Autosomal recessive
syndrome cerebellar hypoplasia; encephalocele; POMT1, 9q34.1
retinal dysplasia; corneal opacities; POMT2, 14q24.3
elevated CK; myopathy Fukutin, 9q31;
multiple other genes
to be identified