Genetics, Syndromes, and Communication Disorders
To stay current with their profession, speech-language, and hearing clinicians and students must have a strong working knowledge of genetic disorders and their associated symptoms. Dr. Shprintzen's comprehensive manual provides a clear, understandable overview of human genetics and the modes of inheritance directly related to communicative disorders, as well as the proper methodology taking a detailed medical, behavioral, and genetic history for diagnosis, treatment, and prognosis. TEXTBOOK
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abnormal absent anom arm of chromosome articulation secondary Autosomal dominant Autosomal recessive bone brain caused cells chromo cleft lip cleft palate clinical clinician cognitive deficiency cognitive impairment common compensatory articulation Conductive hearing loss cranial craniofacial craniosynostosis Crouzon syndrome Delayed and impaired deletion diagnosis disorders drome dysplasia eyes facial Features Speech Production Figure gene genetic genome growth Hearing Primary Etiology heart anomalies Hoarseness holoprosencephaly human hypernasality hypernasality secondary hypertelorism Hyponasality hypoplasia hypotonia impairment secondary karyotype known Language Hearing Primary long arm Major Features Speech malformations mandible maxillary microcephaly micrognathia middle ear mosome mutation nasal Normal Autosomal Normal Normal occur patient pattern phenotype Possible hypernasality result Robin sequence secondary to cleft secondary to cognitive sensorineural hearing loss severe short stature Shprintzen skeletal small stature speech development Speech Production Resonance Stickler syndrome structure teeth teratogenic tion tissue Treacher Collins syndrome trisomy Unknown Usually normal velo-cardio-facial syndrome Voice Language Hearing