Reginald S. Sauve, MD



Cornelia de Lange Syndrome (Brachmann-de Lange Syndrome)

September 14, 2005

This newborn has Cornelia de Lange syndrome, a disorder characterized by prenatal growth retardation (this child weighed 2240 g at birth and measured 46 cm in length), microbrachycephaly, bushy eyebrows, long eyelashes, short neck, low posterior hair line, depressed nasal bridge, anteverted nares, long philtrum, thin upper lip, downturned corners of mouth, micrognathia, a single umbilical artery, phocomelia, micromelia, and oligodactyly.

Trisomy 18 (Edwards Syndrome)

September 14, 2005

This newborn has trisomy 18, as manifested by intrauterine growth retardation (birth weight, 2350 g; length, 47.2 cm), microcephaly (head circumference, 31.5 cm), short neck, hypotonia, feeding difficulties, high-pitched cry, micrognathia, cleft palate, low-set ears, short sternum, widely spaced nipples, clenched hands with ulnar deviation and overlapping digits, micromelia, and a single umbilical artery.

Marfan Syndrome

September 14, 2005

The parents of a 10-year-old boy of normal intelligence brought him for evaluation because of his tall stature. He was 154 cm tall (3 cm above 97th percentile) and weighed 34.3 kg (50th percentile). He exhibited significant arachnodactyly, with an upper to lower segment ratio of 0.8 and an arm span to height ratio of 1.1. He had a long, angular face with a high arched palate and crowded dentition, ptosis, myopia, superior lens subluxation, pectus excavatum, widely spaced and low-set nipples, grade 2/6 ejection systolic murmur at the left sternal border, midthoracic scoliosis, joint hypermobility, positive thumb sign and wrist sign, and pes planus.

Bardet-Biedl Syndrome (Laurence-Moon Syndrome)

September 14, 2005

This 8-year-old girl was born with multiple congenital anomalies. The child had broad, short feet; postaxial polydactyly of the feet bilaterally; brachydactyly of the hands; cystic dysplasia of the kidneys; a single atrium; ventricular septal defect; retinitis pigmentosa; flat nasal bridge; and anteverted nares.

Pierre Robin Syndrome

September 14, 2005

This neonate was born with a high arched and cleft palate and a small jaw-the result of Pierre Robin syndrome, an autosomal recessive disorder also characterized by micrognathia and pseudomacroglossia.