Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: Variable expression of a single disorder (3MC syndrome)?

American Journal of Medical Genetics

Volumn 137 A, Issue 3, 2005, Pages 332-335

  Titomanlio, Luigi ^a   Bennaceur, Selim ^a   Bremond Gignac, Dominique ^a   Baumann, Clarisse ^a   Dupuy, Olivier ^a   Verloes, Alain ^a  

^a HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

BPES; Carnevale syndrome; Malpuech syndrome; Michels syndrome; OSA syndrome

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLEPHAROPHIMOSIS; CARNEVALE SYNDROME; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME DELETION; CLEFT LIP; CLEFT PALATE; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; DOWNWARD PALPEBRAL SLANT; ECHOCARDIOGRAPHY; EPICANTHUS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HYPERTELORISM; INTRAUTERINE GROWTH RETARDATION; MALFORMATION SYNDROME; MALPUECH MICHELS MINGARELLI CARNEVALE SYNDROME; MALPUECH SYNDROME; MENTAL DEFICIENCY; MICHELS SYNDROME; NEUROIMAGING; OCULAR SKELETAL ABDOMINAL SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; SPINE MALFORMATION; STRABISMUS;

ABNORMALITIES, MULTIPLE; BLEPHAROPHIMOSIS; CHILD, PRESCHOOL; CLEFT LIP; CLEFT PALATE; CRANIOSYNOSTOSES; DIAGNOSIS, DIFFERENTIAL; FACE; FEMALE; FETAL GROWTH RETARDATION; HUMANS; HYPERTELORISM; MENTAL RETARDATION; SYNDROME;

EID: 24344469987     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30878     Document Type: Article

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