Titlebook: Atlas of Genetic Diagnosis and Counseling; Harold Chen Reference work 2017Latest edition Springer Science+Business Media LLC 2017 Cutaneou

袋鼠

肉體

osteopath

https://doi.org/10.1007/978-1-84628-955-2In 1955, Jeune et al. described familial asphyxiating thoracic dystrophy (ATD) in a pair of siblings with severely narrow thoraxes. This condition is also known as Jeune syndrome. Incidence is estimated at 1 per 100,000–130,000 live births (den Hollander et al. 2001).

帶傷害

STALL

Adams-Oliver Syndrome,In 1945, Adams and Oliver described congenital transverse limb defects associated with aplasia cutis congenita in a three-generation kindred with typical autosomal dominant inheritance and intrafamilial variable expressivity.

perimenopause

Agnathia,Agnathia is an extremely rare lethal neurocristopathy. The disorder has also been termed agnathia-holoprosencephaly spectrum, agnathia-otocephaly complex, agnathia-astomia-synotia, or cyclopia-otocephaly association. The incidence is estimated to be 1 in 70,000 infants (Schiffer et al. 2002).

卜聞

BURSA

zonules

Alpha-Thalassemia X-Linked Mental Retardation Syndrome,Alpha-thalassemia X-linked mental retardation (ATRX) syndrome, one form of X-linked mental retardation, is characterized by severe mental retardation, typical dysmorphic facies, genital abnormalities, and an unusually mild form of hemoglobin H disease (Gibbons et al. 1995a).

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