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Am J Med Genet ; 110(4): 370-9, 2002 Jul 15.
Article in English | MEDLINE | ID: mdl-12116212

ABSTRACT

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.


Subject(s)
Abnormalities, Multiple/pathology , Focal Dermal Hypoplasia/pathology , Foot Deformities, Congenital/pathology , Hand Deformities, Congenital/pathology , Abnormalities, Multiple/genetics , Adult , Diagnosis, Differential , Female , Foot Deformities, Congenital/diagnostic imaging , Hand Deformities, Congenital/diagnostic imaging , Humans , Infant , Karyotyping , Phenotype , Pregnancy , Syndrome , Ultrasonography, Prenatal
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