Two brothers with deafness, femoral epiphyseal dysplasia, short stature and developmental delay.
Two brothers whose parents are second cousins have short stature, femoral epiphyseal dysplasia, umbilical and inguinal herniae, sensorineural deafness and developmental delay. Both are facially dysmorphic in that the face is triangular in shape with a pointed chin when viewed from the front.
Chitty
L S
LS
Department of Clinical Genetics, Hospital for Sick Children, London.
Hall
C M
CM
Baraitser
M
M
D001848:Bone Diseases, Developmental / Q000473:pathology*; D002675:Child, Preschool; D003638:Deafness; D002658:Developmental Disabilities / Q000473:pathology*; D005269:Femur / Q000002:abnormalities*; D006130:Growth Disorders / Q000151:congenital / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome