Preferred Label : Epiphyseal dysplasia, baumann type;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Baumann et al. (2003) described a pair of dizygotic twins, born to consanguineous
parents, with severely delayed skeletal maturation with normal stature ( 1 to 2 SD).
Bilateral ulnar deviation of the fingers, which was noted neonatally in 1 brother,
resolved by 4 years of age. Beginning at age 3 years, both boys complained of diffuse
lower limb pain, and the parents noted easy fatigability. Physical exam of the brothers
at age 4 years revealed generalized joint laxity, especially in the hands and elbows,
genua valga, and flat feet. The fingers were long with square tips and fifth finger
clinodactyly. Neurologic exam was normal but both brothers were described as clumsy.
Skeletal survey revealed marked delay in bone maturation. Hand skeletal maturation
was delayed with no epiphyseal nuclei except 2 pseudoepiphyses on the 2nd and 3rd
metacarpals. The feet showed similar delays with ossification of only the talus, calcaneus,
and cuboid bones. Radiographs of the pelvis demonstrated narrow iliac wings, marked
delay of ossification of the iliopubic and ischiopubic rami, small irregular horizontal
roofs, broad femoral necks with mild valgus, and small irregular femoral epiphyses.
Mild metaphyseal irregularities with flaring were noted on the upper femoral and lower
tibial metaphyses. Baumann et al. (2003) suggested autosomal recessive inheritance
because of the occurrence in 2 sibs of consanguineous parents. *FIELD* RF 1. Baumann,
C.; Garel, C.; Vuillemain, L.; Hassan, M.; Verloes, A. : Severely delayed epiphyseal
ossification dysplasia with normal stature. Am. J. Med. Genet. 120A: 553-556, 2003.
*FIELD* CS Autosomal recessive;
Inheritance : Autosomal recessive;
Prefixed ID : 610797;
Origin ID : 610797;
UMLS CUI : C1835830;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
