Congenital malformations - Edocr

CHAPTER 50 HEMIHYPERPLASIA AND OVERGROWTH DISORDERS 349
TABLE 50-1 Generalized Overgrowth Syndromes in Newborn
Syndrome Features Etiology
Beckwith-Wiedemann Macroglossia, infraorbital creases, ear lobe Autosomal dominant,
creases and pits, abdominal wall defects,
sporadic
neonatal hypoglycemia, visceromegaly, risk
for abdominal neoplasms, hemihypertrophy,
polyhydramnios, large placenta
Perlman Hypotonia, mental retardation, serration of upper Autosomal dominant
alveolar ridge, nephromegaly, bilateral cortical
hamartomas, and nephroblastomatosis
Sotos Macrocephaly, dolichocephaly, downslanting Sporadic
palpebral fissures, hypertelorism, prognathism,
high narrow palate, premature eruption of teeth,
large hands and feet, kyphoscoliosis, mental
deficiency
Weaver Mental retardation, hypertonia, hoarse voice, Sporadic
macrocephaly, round face, ocular hypertelorism,
down-slanting palpebral fissures, long philtrum,
large ears, micrognathia, camptodactyly, thin
deep-set nails, prominent fingertip pads
Bannayan-Riley- Delayed gross motor development, hypotonia, Autosomal dominant
Ruvalcaba
speech delay, mental deficiency, macrocephaly,
pseudopapilledema, mesodermal hamartomas,
lipid storage myopathy
Simpson-Golabi- Macrocephaly, ocular hypertelorism, short broad X-linked recessive
Behmel
nose, large mouth, macroglossia, variable mental
retardation, hypotonia, postaxial polydactyly of
hands, nail hypoplasia, partial cutaneous
syndactyly, cryptorchidism, supernumerary
nipples, cardiac defects, gastrointestinal defects,
large cystic kidneys
Elejalde Craniosynostosis, gross edema, short limbs, Autosomal recessive
postaxial polydactyly, redundant neck skin, cystic
renal dysplasia, congenital heart defect, spleen
anomaly, micromelia
Nevo Large, low-set malformed ears, cryptorchidism, Autosomal recessive
accelerated osseous maturation, dolichocephaly,
large extremities, clumsiness and retarded motor
and speech development, generalized edema,
hypotonia, contractures of the feet, wrist drop,
clinodactyly
Marshall-Smith Accelerated linear growth, skeletal maturation, Sporadic
postnatal failure to thrive, hypotonia,
development delay, structural brain anomalies,
respiratory tract anomalies, recurrent pneumonia,
pulmonary hypertension, dolichocephaly, coarse
eyebrows, shallow orbits, blue sclerae, upturned
nose, low nasal bridge, small mandibular ramus,
hypertrichosis, umbilical hernia, choanal atresia,
omphalocele