Titlebook: Atlas of Genetic Diagnosis and Counseling; Harold Chen Book 2006Latest edition Humana Press 2006

反省

Subdue

Peng Zhang,Juntao Gao,Wenjuan Jia,Xuelian LiAmniotic band syndrome occurs in one of every 5000 to 15,000 births and had been demonstrated in 1–2% of malformed infants.

orthodox

Xi Luo,Chunjie Cao,Longjuan WangArthrogryposis multiplex congenita comprises nonprogressive conditions characterized by multiple joint contractures throughout the body at birth. The term encompasses a very heterogeneous group of disorders having the common feature of multiple congenital joint contractures. The frequency is approximately 1 in 3000 live births.

HALL

Xi Luo,Chunjie Cao,Longjuan WangIn 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.

窝转脊椎动物

GWDGA: An Effective Adversarial DGAIn 1982, Maroteaux et al. proposed the term “atelosteogenesis” for a newborn skeletal dysplasia characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine, and other skeletal elements. Atelosteogenesis encompasses a heterogeneous group of disorders with overlapping phenotypic features.

榨取

Xi Luo,Chunjie Cao,Longjuan WangAutism is a pervasive developmental disorder, defined by impairments in social and communication function, and repetitive and stereotyped behavioral patterns. It occurs in approximately 7–40 out of 10,000 persons.

Osteoarthritis

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.

MAIZE

cancellous-bone

Aicardi Syndrome,In 1965, Aicardi et al. reported a new syndrome consisting of spasms in flexion, callosal agenesis, and ocular abnormalities. Actual frequency of the condition is not known, but about 1–4% of cases of infantile spasms from tertiary referral centers may be due to Aicardi syndrome.

ELUC

Albinism,Albinism refers to a group of inherited abnormalities of melanin synthesis resulting in congenital hypopigmentation. It involves the skin, hair, and eyes (oculocutaneous albinism) or may be limited primarily to the eyes (ocular albinism). The estimated frequency of affected individuals in the USA is approximately 1/17,000.