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.
Department of Medical Genetics, University of Wisconsin-Madison, Madison, Wisconsin 53705, USA.
Susan
S
Hancock
Peter
P
Pryde
Christine
C
Fong
Jane E
JE
Brazy
Katharina
K
Stewart
Amy
A
Favour
Richard M
RM
Pauli
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