Carpenter syndrome: Report of two siblings

Işlek I., Küçüködük S., İncesu L., Selçuk M., AYGÜN D.

Clinical Dysmorphology, vol.7, no.3, pp.185-189, 1998 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 7 Issue: 3
  • Publication Date: 1998
  • Doi Number: 10.1097/00019605-199807000-00005
  • Journal Name: Clinical Dysmorphology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.185-189
  • Keywords: Acrocephalopolysyndactyly, Carpenter syndrome, Cerebrospinal malformations
  • Ondokuz Mayıs University Affiliated: Yes

Abstract

Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and mental retardation. Here we report two affected sibs (IQs were 80 and 93) presenting various cerebrospinal malformations, ie frontal lobe deformity, narrowed foramen magnum, hypoplastic posterior fossa, kinked spinal cord, and syrinx cavitation demonstrated by magnetic resonance imaging.