Congenital malformations - Edocr

TABLE 51-1 Syndromes Associated with Cystic Hygroma
Syndrome Other Common Clinical Features Etiology
358
Achondrogenesis Severe short stature, micrognathia, short ribs, ossification Sporadic or autosomal
abnormalities of bones, cleft palate, short limbs
dominant
Achondroplasia Short stature, midfacial hypoplasia, macrocephaly, Autosomal dominant
trident hands
Cornelia de Lange syndrome IUGR, weak growling cry, synophrys, microbrachycephaly, Autosomal dominant
long philtrum, thin upper lip, micrognathia, micromelia,
cryptorchidism
Fryns syndrome Diaphragmatic defects, distal digital hypoplasia, pulmonary Autosomal recessive
hypoplasia, Dandy-Walker malformation, agenesis of
corpus callosum, ventricular septal defect
Klinefelter syndrome Hypogonadism, cryptorchidism, clinodactyly, long limbs Chromosomal abnormality,
and behavioral problems later in life
47 XXY due to error in
meiosis
Noonan syndrome Hypertelorism, ptosis, low-set ears, webbed neck, Autosomal dominant
low posterior hairline, shield chest, pulmonary stenosis
and other cardiac defects, cryptorchidism, lymphatic
dysplasia, hypogonadism
Roberts-SC Phocomelia Hypomelia limb reduction defects of both upper and lower Autosomal recessive
limbs midfacial defects such as cleft lip and palate,
microcephaly, severe IUGR, cryptorchidism,
eye anomalies
Short rib-polydactyly syndrome, Phocomelia, metaphyseal dysplasia, postaxial polydactyly, Autosomal recessive
type I (Saldino-Noonan type) syndactyly, cardiac defects, imperforate anus
Short rib-polydactyly syndrome, Short ribs and limbs, cleft lip and palate, pulmonary Autosomal recessive
type II (Majewski type)
hypoplasia, hypoplasia of epiglottis and larynx,
pre/postaxial polydactyly
Thanatophoric dysplasia Severe micromelia, respiratory failure, craniosynostosis, Autosomal dominant
short flattened vertebrae, cardiac defect,
renal anomalies
Trisomy 13 Holoprosencephaly, micropthalmia, cyclopia, microcephaly, Trisomy
cleft lip and palate, heart defects, IUGR, genital
abnormalities