Intrafamilial phenotypic variations in cranioectodermal dysplasia: Propositus with typical manifestations and her brother with perinatal death [5]

American Journal of Medical Genetics

Volumn 107, Issue 1, 2002, Pages 78-80

  Tamai, Shinya ^a   Tojo, Masahiro ^a   Kamimaki, Tsutomu ^a   Sato, Yuko ^a   Nishimura, Gen ^b  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Nasu Central Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CAVALLAZZI SYNDROME; CHILD; CLINICAL FEATURE; CRANIOECTODERMAL DYSPLASIA; DISEASE COURSE; DYSPLASIA; ECTODERMAL DYSPLASIA; FACE MALFORMATION; FAMILY STUDY; FEMALE; HUMAN; KIDNEY FAILURE; LETTER; LUNG HYPOPLASIA; MALE; NEWBORN; PERINATAL DEATH; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY FAILURE; SKELETON MALFORMATION; SKULL MALFORMATION; SYNDROME;

ABNORMALITIES, MULTIPLE; BONE AND BONES; CRANIOFACIAL ABNORMALITIES; ECTODERMAL DYSPLASIA; FATAL OUTCOME; FEMALE; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT, NEWBORN; LEG BONES; MALE; PERINATAL CARE; PHENOTYPE;

RAPHIA FRATER;

EID: 0036135508     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10088     Document Type: Letter

References (6)

1. Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)
2. International nomenclature and classification of the osteochondrodysplasias (1997)
3. Cone-shaped epiphyses
4. Chronic tubulo-interstitial nephropathy in children with cranioectodermal dysplasia
5. New syndrome of skeletal, dental and hair anomalies
6. Cranioectodermal dysplasia (Sensenbrenner's syndrome)