A distinct osteochondrodysplasia with hypertrichosis—individualization of a probable autosomal recessive entity
JM Cantú, D Garcia-Cruz, J Sanchez-Corona… - Human genetics, 1982 - Springer
JM Cantú, D Garcia-Cruz, J Sanchez-Corona, A Hernandez, Z Nazará
Human genetics, 1982•SpringerTwo sibs and two other unrelated patients presented a distinct previously undescribed
syndrome consisting of generalized congenital hypertrichosis, macrosomy at birth, narrow
thorax, cardiomegaly, wide ribs, platyspondyly, hypoplastic ischiopubic branches, small
obturator foramen, bilateral coxa valga, enlarged medullar canal, long bones shaped like an
'Erlenmeyer flasks' and generalized osteopenia. The family data suggest autosomal
recessive inheritance.
syndrome consisting of generalized congenital hypertrichosis, macrosomy at birth, narrow
thorax, cardiomegaly, wide ribs, platyspondyly, hypoplastic ischiopubic branches, small
obturator foramen, bilateral coxa valga, enlarged medullar canal, long bones shaped like an
'Erlenmeyer flasks' and generalized osteopenia. The family data suggest autosomal
recessive inheritance.
Summary
Two sibs and two other unrelated patients presented a distinct previously undescribed syndrome consisting of generalized congenital hypertrichosis, macrosomy at birth, narrow thorax, cardiomegaly, wide ribs, platyspondyly, hypoplastic ischiopubic branches, small obturator foramen, bilateral coxa valga, enlarged medullar canal, long bones shaped like an ‘Erlenmeyer flasks’ and generalized osteopenia. The family data suggest autosomal recessive inheritance.
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