We report on 5 sibs (4 males, 1 female) with growth retardation, severe pelvic hypoplasia, arthrogrypotic changes and muscular hypotrophy of the lower limbs, and mild vertebral changes of prenatal onset. To our knowledge, this syndrome has not yet been reported. The family history suggests autosomal-recessive inheritance
Limb defects are the second most common congenital disease in children. They occur in the prenatal p...
3-M syndrome (OMIM #273750) is a rare autosomal recessive growth disorder characterized by severe pr...
We report on a four-generation inbred family including 10 individuals affected with a form of cranio...
We report on 5 sibs (4 males, 1 female) with growth retardation, severe pelvic hypoplasia, arthrogry...
Three affected sibs in a consanguineous family with short stature, mental retardation, downslanting ...
We describe an apparently new genetic syndrome in six members of a family living in a remote area in...
We present a girl with short stature, growth hormone neurosecretory dysfunction, severe hypoplastic/...
Autosomal recessive omodysplasia (ARO), a rare congenital skeletal dysplasia, is characterized by mi...
Autosomal recessive omodysplasia (ARO, OMIM# 258315), a rare congenital skeletal dysplasia, is chara...
We describe a family in which two adult sibs presented with a history of congenital nonprogressive m...
Autosomal dominant congenital epiphyseal dysplasia limited to the femoral heads: A father and son wi...
A grandmother, her three children, and three grandchildren had skeletal abnormalities consisting of ...
International audienceWe report on a multiply consanguineous Syrian family where two siblings, a boy...
severe arthrogryposis multiplex congenita leading to death in infancy due to neuro-genic atrophy is ...
Isolated limb deficiencies are usually sporadic occurrences. However, if they are associated with ot...
Limb defects are the second most common congenital disease in children. They occur in the prenatal p...
3-M syndrome (OMIM #273750) is a rare autosomal recessive growth disorder characterized by severe pr...
We report on a four-generation inbred family including 10 individuals affected with a form of cranio...
We report on 5 sibs (4 males, 1 female) with growth retardation, severe pelvic hypoplasia, arthrogry...
Three affected sibs in a consanguineous family with short stature, mental retardation, downslanting ...
We describe an apparently new genetic syndrome in six members of a family living in a remote area in...
We present a girl with short stature, growth hormone neurosecretory dysfunction, severe hypoplastic/...
Autosomal recessive omodysplasia (ARO), a rare congenital skeletal dysplasia, is characterized by mi...
Autosomal recessive omodysplasia (ARO, OMIM# 258315), a rare congenital skeletal dysplasia, is chara...
We describe a family in which two adult sibs presented with a history of congenital nonprogressive m...
Autosomal dominant congenital epiphyseal dysplasia limited to the femoral heads: A father and son wi...
A grandmother, her three children, and three grandchildren had skeletal abnormalities consisting of ...
International audienceWe report on a multiply consanguineous Syrian family where two siblings, a boy...
severe arthrogryposis multiplex congenita leading to death in infancy due to neuro-genic atrophy is ...
Isolated limb deficiencies are usually sporadic occurrences. However, if they are associated with ot...
Limb defects are the second most common congenital disease in children. They occur in the prenatal p...
3-M syndrome (OMIM #273750) is a rare autosomal recessive growth disorder characterized by severe pr...
We report on a four-generation inbred family including 10 individuals affected with a form of cranio...