Bowen-Conradi syndrome

Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.

Micrognathia

Developmental hypoplasia of the mandible.


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PMID (PMCID)
484596
 MIXED_SAMPLE Infant, Newborn
The Bowen-Conradi syndrome -- a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities.
Hunter AG, Woerner SJ, Montalvo-Hicks LD, Fowlow SB, Haslam RH, Metcalf PJ, Lowry RB.
Am J Med Genet. 1979;3(3):269-79.
The Bowen-Conradi syndrome -- a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities.