Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: a new multiple malformation syndrome, or a severe form of oral-facial-digital syndrome type IV?

L C Adès; W K Clapton; A Morphett; L L Morris; E A Haan

doi:10.1002/ajmg.1320490211

Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: a new multiple malformation syndrome, or a severe form of oral-facial-digital syndrome type IV?

Am J Med Genet. 1994 Jan 15;49(2):211-7. doi: 10.1002/ajmg.1320490211.

Authors

L C Adès¹, W K Clapton, A Morphett, L L Morris, E A Haan

Affiliation

¹ Department of Medical Genetics, Women's and Children's Hospital (Adelaide Children's Hospital Division), North Adelaide, South Australia.

PMID: 8116671
DOI: 10.1002/ajmg.1320490211

Abstract

We describe a 27-week fetus with occipitoschisis, polydactyly, campomelia, cleft palate, laryngeal dysplasia, ocular colobomata, hepatic fibrosis and intrahepatic cyst, ambiguous genitalia, cystic dysplastic kidneys, and brain malformation. This pattern of abnormalities appears unique. The differential diagnosis is discussed. The parents are first cousins, making autosomal recessive inheritance likely.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnosis*
Bone and Bones / abnormalities
Brain / abnormalities
Consanguinity
Diagnosis, Differential
Fetal Death / pathology
Genitalia / abnormalities
Gonadal Dysgenesis, 46,XY
Humans
Male
Orofaciodigital Syndromes / diagnosis*
Polycystic Kidney Diseases
Polydactyly
Syndrome