A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form).
We report a father and son affected by spondylo-epi-metaphyseal dysplasia with multiple dislocations (Hall type), also called leptodactylic form. This family contributes to the delineation of the clinical and radiological phenotype of this rare condition.
Rossi
Massimiliano
M
Department of Pediatrics, Federico II University, Naples, Italy Radiology Department, Great Ormond Street Hospital and Institute of Child Health, London, UK.
De Brasi
Daniele
D
Hall
Christine M
CM
Battagliese
Antonella
A
Melis
Daniela
D
Sebastio
Gianfranco
G
Andria
Generoso
G
D000328:Adult; D001827:Body Height; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006801:Humans; D007223:Infant; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis*