A new syndrome? Unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus

K Kozlowski; J Brown; R Hardwick; D Sillence

doi:10.1007/BF02016246

A new syndrome? Unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus

Pediatr Radiol. 1992;22(5):328-30. doi: 10.1007/BF02016246.

Authors

K Kozlowski¹, J Brown, R Hardwick, D Sillence

Affiliation

¹ Department of Radiology, Royal Alexandra Hospital for Children, Sidney, NSW, Australia.

PMID: 1408436
DOI: 10.1007/BF02016246

Abstract

Two strikingly similar twin sisters presented with characteristic facial anomalies and distinctive radiographic findings. The occurrence of this unique pattern of malformations in two sisters with unaffected parents suggests recessive inheritance. They most likely represent a previously unrecognised malformation syndrome.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple* / diagnostic imaging
Abnormalities, Multiple* / genetics
Bone and Bones / abnormalities*
Bone and Bones / diagnostic imaging
Diseases in Twins*
Face / abnormalities*
Female
Humans
Hydrocephalus* / diagnostic imaging
Infant
Radiography
Syndrome
Twins, Dizygotic