Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)

American Journal of Medical Genetics

Volumn 70, Issue 4, 1997, Pages 349-352

  Amar, M J A ^a   Sutphen, R ^a   Kousseff, B G ^a,b  

^a UNIVERSITY OF SOUTH FLORIDA   (United States)

^b UNIVERSITY OF SOUTH FLORIDA   (United States)

Author keywords

Craniosynostosis; Dental abnormalities; Hair abnormalities; Hypocalcemia; Seizures; Short limbs

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CRANIOFACIAL SYNOSTOSIS; ECTODERMAL DYSPLASIA; FEMALE; GROWTH RETARDATION; HAIR DISEASE; HUMAN; HYPOCALCEMIA; MICROCEPHALY; PHENOTYPE; PHOTOPHOBIA; PRIORITY JOURNAL; SEIZURE; SHORT LIMBED DWARFISM; SYNDROME; TOOTH DISEASE; ADULT; BLOOD; BONE; CONGENITAL MALFORMATION; CRANIOFACIAL MALFORMATION; FOOT MALFORMATION; GENETICS; HAIR; HAND MALFORMATION; MALE; PRESCHOOL CHILD; RADIOGRAPHY; THORAX; TOOTH MALFORMATION;

PARATHYROID HORMONE;

ADULT; BONE AND BONES; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; ECTODERMAL DYSPLASIA; FEMALE; FOOT DEFORMITIES, CONGENITAL; HAIR; HAND DEFORMITIES, CONGENITAL; HUMANS; MALE; PARATHYROID HORMONE; PHENOTYPE; THORAX; TOOTH ABNORMALITIES;

EID: 0030609845     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19970627)70:4<349::aid-ajmg3>3.0.co;2-o     Document Type: Article

References (7)

1. Freire-Maia N, Pinheiro M (1984): "Ectodermal Dysplasias: A clinical and Genetic Study." New York: Alan R. Liss, pp 67-108.
2. Gellis SS, Feingold M, Dubner D (1979): Cranioectodermal dysplasia. Am J Dis Child 133:1275-1276.
3. Gorlin RJ, Cohen MMJ, Levin LS (1990): "Syndromes of the Head and Neck," 3rd edition. Oxford: Oxford University Press, p 546.
4. Lang GD, Young ID (1991): Cranioectodermal dysplasia in siblings - short report. J Med Genet 28:424.
5. Levin LS, Perrin JCS, Ose L (1977): A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: Cranioectodermal dysplasia. J Pediatr 90:55-61.
6. Sensenbrenner JA, Dorst JP, Owens RP (1975): New syndrome of skeletal, dental and hair anomalies. BDOAS XI(2):372-379.
7. Young ID (1989): Syndrome of the month. Cranioectodermal dysplasia (Sensenbrenner's syndrome). J Med Genet 26:393-396.