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

Scintillations

脫落

Arthrogryposis Multiplex Congenita,Arthrogryposis 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.

BIPED

使長胖

Atelosteogenesis,In 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.

條街道往前推

Autism,Autism 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.

INCH

恃強(qiáng)凌弱的人

Achondrogenesis,ormal cartilage matrix. Classification of type IB as a separate group has been confirmed recently by the discovery of its association with mutations in the diastrophic dysplasia sulfate transporter (.) gene, making it allelic with diastrophic dysplasia.

侵蝕

Judicious

AGATE

Apert Syndrome, feet. It probably is the most familiar and best-described type of acrocephalosyndactyly. Prevalence is estimated at 1 in 65,000 (approximately 15.5 in 1,000,000) live births. Apert syndrome accounts for 4.5% of all cases of craniosynostosis.