Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution.
We describe a girl who was diagnosed with split foot-split hand anomaly prenatally, in whom at birth the diagnosis of Van Allen-Myhre syndrome was made, and who at 8 months of age was recognized to have Goltz syndrome. Based on the evolution of clinical features in this infant, we suggest that our case, as well as that reported by Van Allen and Myhre, is an example of unusually severe Goltz syndrome.
Hancock
Susan
S
Department of Medical Genetics, University of Wisconsin-Madison, Madison, Wisconsin 53705, USA.
Pryde
Peter
P
Fong
Christine
C
Brazy
Jane E
JE
Stewart
Katharina
K
Favour
Amy
A
Pauli
Richard M
RM
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000473:pathology*; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000473:pathology*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D010641:Phenotype; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal