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Prader-Labhart-Willi syndrome. 1990

Y Anavi, and S M Mintz
Deputy, Oral and Maxillofacial Surgery, Beilinson Medical Center, Petah Tikva, Israel.

Prader-Labhart-Willi Syndrome is a complex, multisystem sporadic disorder which presents during childhood and proceeds into adulthood. The major features include infantile hypotonia, developmental delay, hypogonadism with abnormal sexual maturation, mental retardation and behavior abnormalities, short stature with small hands and feet, massive obesity with diabetes mellitus, dysmorphic facial features, and marked dental caries and enamel hypoplasia. Recently, a deletion of chromosome 15 has been found in a large percentage of these patients, but the exact cause and genetic transmission has not yet been determined. Two cases of Prader-Labhart-Willi Syndrome are presented with emphasis on the differential diagnosis of enamel hypoplasia associated with sexual maturation.

UI MeSH Term Description Entries
D008297 Male Males
D011218 Prader-Willi Syndrome An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229) Labhart-Willi Syndrome,Royer Syndrome,Labhart-Willi-Prader-Fanconi Syndrome,Prader Labhart Willi Syndrome,Prader-Labhart-Willi Syndrome,Royer's Syndrome,Willi-Prader Syndrome,Labhart Willi Prader Fanconi Syndrome,Labhart Willi Syndrome,Prader Willi Syndrome,Royers Syndrome,Syndrome, Labhart-Willi,Syndrome, Labhart-Willi-Prader-Fanconi,Syndrome, Prader-Labhart-Willi,Syndrome, Prader-Willi,Syndrome, Royer,Syndrome, Royer's,Syndrome, Willi-Prader,Willi Prader Syndrome
D011671 Pulpitis Inflammation of the DENTAL PULP, usually due to bacterial infection in dental caries, tooth fracture, or other conditions causing exposure of the pulp to bacterial invasion. Chemical irritants, thermal factors, hyperemic changes, and other factors may also cause pulpitis. Inflammation, Endodontic,Endodontic Inflammation,Endodontic Inflammations,Inflammations, Endodontic,Pulpitides
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D003731 Dental Caries Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. Caries, Dental,Carious Lesions,Dental Cavities,Dental Cavity,Dental Decay,Dental White Spots,Carious Dentin,Decay, Dental,Dental White Spot,White Spot, Dental,White Spots, Dental,Carious Dentins,Carious Lesion,Cavities, Dental,Cavity, Dental,Dentin, Carious,Dentins, Carious,Lesion, Carious,Lesions, Carious,Spot, Dental White,Spots, Dental White
D003744 Dental Enamel Hypoplasia An acquired or hereditary condition due to deficiency in the formation of tooth enamel (AMELOGENESIS). It is usually characterized by defective, thin, or malformed DENTAL ENAMEL. Risk factors for enamel hypoplasia include gene mutations, nutritional deficiencies, diseases, and environmental factors. Enamel Hypoplasia,Enamel Agenesis,Enamel Hypoplasia, Dental,Hypoplasia, Dental Enamel,Hypoplastic Enamel,Agenesis, Enamel,Enamel Ageneses,Enamel Hypoplasias,Enamel, Hypoplastic,Hypoplasia, Enamel
D005157 Facial Pain Pain in the facial region including orofacial pain and craniofacial pain. Associated conditions include local inflammatory and neoplastic disorders and neuralgic syndromes involving the trigeminal, facial, and glossopharyngeal nerves. Conditions which feature recurrent or persistent facial pain as the primary manifestation of disease are referred to as FACIAL PAIN SYNDROMES. Craniofacial Pain,Myofacial Pain,Orofacial Pain,Pain, Facial,Face Pain,Neuralgic Facial Pain,Facial Pain, Neuralgic,Pain, Craniofacial,Pain, Face,Pain, Myofacial,Pain, Neuralgic Facial,Pain, Orofacial
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

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