A hypothesis is presented to explain the pathogenesis of the Poland, Klippel-Feil, and Möbius anomalies, isolated absence of the pectoralis major with breast hypoplasia, isolated terminal transverse… (More)
The main features of Wiedemann-Beckwith syndrome (WBS) include macroglossia, abdominal wall defects, visceromegaly, gigantism, hypoglycemia, ear creases, nevus flammeus, and mid-face hypoplasia.… (More)
Features of both the Goldenhar and the caudal regression syndromes were found in the patient described. A search of the literature revealed two other patients having both conditions. However, a… (More)
We have identified 25 cases with what we are calling the partial urorectal septum malformation (URSM) sequence, which were seen in our institution over the past 27 years. The partial URSM sequence is… (More)
VATER "association" is a common condition, with the diagnosis typically based on a characteristic constellation of congenital anomalies. Reported long-term follow-up information on VATER association… (More)
We used trio-based whole-exome sequencing to analyze two families affected by Weaver syndrome, including one of the original families reported in 1974. Filtering of rare variants in the affected… (More)
We encountered six female infants with a specific pattern of developmental abnormalities of the urogenital and lower intestinal tracts. The anomalies included ambiguous genitalia, lack of perineal… (More)
Trisomy 13 mosaicism occurs when two cell lines, one with a normal complement of chromosomes and the other with an additional chromosome 13, are present in the same individual. We present two… (More)
Three infants are reported with a recognizable pattern of defects consisting of severe microcephaly, overlapping sutures, prominence of the occipital bone, and scalp rugae. This condition, which we… (More)
Copy number variants (CNVs) are major contributors to genomic imbalance disorders. Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal 16p11.2 220 kb BP2-BP3… (More)