Acrocephalopolysyndactyly type II—Carpenter syndrome: Clinical spectrum and an attempt at unification with Goodman and Summit syndromes
✍ Scribed by Cohen, Donald M. ;Green, James G. ;Miller, Janice ;Gorlin, Robert J. ;Reed, Jerry A. ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1987
- Tongue
- English
- Weight
- 757 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
Carpenter syndrome (ACPS type 11) was first described by Carpenter in 1901. The syndrome consists of acrocephaly, soft tissue syndactyly, brachyor agenesis mesophalangy of the hands and feet, preaxial polydactyly, congenital heart disease, mental retardation, hypogenitalism, obesity, and umbilical hernia. Here we review the literature on Carpenter syndrome and add 2 affected sibs with marked intrafamilial variability. This review showed that 2 reported variations of Carpenter syndrome, Goodman and Summitt syndromes, actually fall within the clinical spectrum of this disorder. This confirms earlier suggestions of Gorlin (personal communication 1982) and Hall et al [Am J Med Genet 5:423434, 19801.