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14 Carpenter Syndrome 614 Carpenter Syndrome 14 Carpenter Syndrome Acro-cephalo-polysyndactyly Type II, ACPS II Hands • Brachydactyly, stubby fingers Acrocephaly, peculiar facies, syndactyly of fingers, • Short or absent middle phalanges polysyndactyly of toes, obesity, mental retardation • Soft tissue syndactyly (mostly involving 3rd and 4th fingers) Frequency: Rare. • Clinodactyly • Camptodactyly Genetics • Duplication of the proximal phalanx of the thumbs Autosomal recessive (OMIM 201000); Goodman Feet syndrome (OMIM 201220) and Summitt syndrome • Preaxial polydactyly (OMIM 272350) are within the clinical spectrum of • Partial syndactyly ACPS II. • Short or absent middle phalanges • Metatarsus varus Clinical Features Extremities • Acrocephaly, asymmetrical turricephaly, promi- • Genu valgum nent metopic ridge • Laterally displaced patella • Flat facies, shallow orbits, hypertelorism, epican- Pelvis thal folds, lateral displacement of medial canthi, • Flared ilia downward palpebral fissures, broad cheeks, nar- • Poorly developed acetabula row maxilla, high palate, low set ears • Coxa valga • Small genitalia • Genu valgum, lateral position of the patella • Finger brachydactyly, syndactyly Bibliography • Pes varus, broad hallux, preaxial polydactyly of toes Cohen DM, Green JG, Miller J, Gorlin RJ, Reed JA. Acro- • Congenital heart disease cephalopolysyndactyly type II-Carpenter syndrome: clini- • cal spectrum and an attempt at unification with Goodman Truncal obesity in older patients and Summitt syndromes.Am J Med Genet 1987; 28: 311–24 • Variable mental retardation Gershoni-Baruch R. Carpenter syndrome: marked variability of expression to include the Summitt and Goodman syn- Differential Diagnosis dromes. Am J Med Genet 1990; 35: 236–40 • Goodman syndrome Richieri-Costa A,Pirolo Junior L,Cohen MM Jr.Carpenter syn- • drome with normal intelligence: Brazilian girl born to con- Summit syndrome sanguineous parents. Am J Med Genet 1993; 47: 281–3 • Apert syndrome Robinson LK, James HE, Mubarak SJ, Allen EJ, Jones KL. Car- • Bardet-Biedl syndrome penter syndrome: natural history and clinical spectrum. Am J Med Genet 1985; 20: 461–9 Radiographic Features Taravath S, Tonsgard JH. Cerebral malformations in Carpenter syndrome. Pediatr Neurol 1993; 9: 230–4 Skull • Craniosynostosis (sagittal and lambdoid sutures first to close) • Cranial asymmetry (due to unilateral closure of coronal and lambdoid sutures) • Cloverleaf skull (occasionally) Carpenter Syndrome 615 Fig. 14.1 a–d. Patient 1, 5 years. a Craniofacial features include hy- pertelorism, shallow orbits, down- ward slanted palpebral fissures, and hypoplastic eyebrows. Note also deformity of the frontal bones and low-set ears. b Small genitalia. c Slightly tapering fin- gers, mild cutaneous syndactyly. d Syndactyly between toes 2 and 3, with malpositioned 2nd toe C ab cd Fig. 14.2. a Patient 2, 15 years. Note short middle phalanges and dislocation and flexion contrac- ture of the distal interphalangeal joints. An extra ossification center is visible at the metacarpo-pha- langeal joint of the thumb. b Pa- tient 3, 10 years. There are dupli- cation of the phalanges of the great toe, broad 1st metatarsal, and short middle phalanges. (Re- printed, with permission, from Robinson et al. 1985) ab.
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