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

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https://doi.org/10.1007/978-1-84628-955-2hter, absent speech, and dysmorphic facial features. The syndrome, which bears his name, was originally called the “happy puppet” syndrome. The incidence is estimated to be 1 in 12,000 to 1 in 20,000 (Clayton-Smith and Pembrey 1992; Petersen et al. 1995; Steffenburg et al. 1996).

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Integration of Information Systems,ant disorder characterized by craniosynostosis, craniofacial anomalies, and severe symmetrical syndactyly (cutaneous and bony fusion) of the hands and feet. It probably is the most familiar and best-described type of acrocephalosyndactyly. Prevalence is estimated at 1 in 65,000 (approximately 15.5 i

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https://doi.org/10.1007/978-1-84628-955-2pulmonary infections, radiosensitivity, and a predisposition to malignancy. It is the most common cause of progressive cerebellar ataxia in childhood. The prevalence is estimated to be 1 in 40,000–1 in 100,000 live births.

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Acardia, arterial perfusion (TRAP) syndrome or sequence. This condition is very rare and occurs in 1 in 34,600 births or 1 in 100 monozygotic twins (Gillim and Hendricks 1953) and 1 in 30 monozygotic triplets (Van Allen et al. 1983; Napolitani and Schreiber 1960; Moore et al. 1990; Sanjaghsaz et al. 1998; B

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Achondrogenesis,rked histological cartilage changes. The term was later used to characterize the most severe forms of chondrodysplasia in humans, which were invariably lethal before or shortly after birth. By the 1970s, researchers concluded that achondrogenesis was a heterogeneous group of chondrodysplasias lethal

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Albinism,and eyes (oculocutaneous albinism) or may be limited primarily to the eyes (ocular albinism). Current classification of albinism is determined by the affected gene, making the previously used terms “partial or complete” and “tyrosinase positive or tyrosinase negative” obsolete (King and Oetting 2007

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