Previously apparently undescribed autosomal-recessive Multiple Congenital Anomalies/Mental Retardation (MCA/MR) syndrome comprising: Fronto-nasal dysplasia, hypertelorism, short stature and brachydactily

Current Pediatric Reviews

Volumn 3, Issue 4, 2007, Pages 328-331

  Haimi, Motti ^a,b   Gershoni Baruch, Ruth ^a,b  

^a RAMBAM MEDICAL CENTER   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

Author keywords

Autosomal recessive inheritance; Brachy clinodactily; Fronto nasal dysplasia; Hypertelorism

Indexed keywords

ACNE; ADOLESCENT; ADULT; ARAB; AUTOSOMAL RECESSIVE INHERITANCE; BRACHYDACTYLY; CASE REPORT; CLINICAL FEATURE; CLINODACTYLY; CONGENITAL MALFORMATION; CONSANGUINITY; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DRUSEN; DYSARTHRIA; FACIES; FEMALE; FUNNEL CHEST; HAND RADIOGRAPHY; HIRSUTISM; HUMAN; HYPERTELORISM; IRIS DISEASE; ISRAEL; LONG PHILTRUM; LOW SET EAR; METACARPAL BONE; MOSLEM; MULTIPLE CONGENITAL ANOMALY AND MENTAL RETARDATION SYNDROME; NEUROPSYCHOLOGY; OPTIC DISK; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; REVIEW; SCHOOL CHILD; SHORT STATURE; WEBBED NECK;

EID: 36249008091     PISSN: 15733963     EISSN: None     Source Type: Journal    
DOI: 10.2174/157339607782411484     Document Type: Review

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