Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome.
Split hand/foot malformation (SHFM) is a genetically heterogeneous limb malformation that may be isolated or associated with other malformations. More than 50 recognizable entities with SHFM have been described and at least 5 mapped genetic loci have been implicated. Two brothers with intrauterine growth retardation, short stature, distinctive face, microphthalmia, genital anomalies, and SHFM are described. Molecular analyses of TP63, HOXA13, and HOXD13 genes were normal. We propose this pattern to be a newly recognized SHFM syndrome.
García-Ortiz
Jose E
JE
Departamento de Inmunobiología Molecular, CIB, Facultad de Medicina Universidad Autónoma de Coahuila, Torreón, Coahuila, México. egarcia@cucs.udg.mx
Banda-Espinoza
Felipe
F
Zenteno
Juan C
JC
Galván-Uriarte
Luz M
LM
Ruiz-Flores
Pablo
P
García-Cruz
Diana
D
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D005145:Face / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000473:pathology; D006228:Hand Deformities, Congenital / Q000473:pathology*; D006801:Humans; D007021:Hypospadias / Q000473:pathology*; D008297:Male; D008850:Microphthalmos / Q000473:pathology*; D010375:Pedigree; D035781:Siblings; D013577:Syndrome