Familial lethal skeletal dysplasia with cloverleaf skull and multiple anomalies of brain, eye, face and heart: A new autosomal recessive multiple congenital anomalies syndrome

Clinical Genetics

Volumn 61, Issue 5, 2002, Pages 369-374

  Sharony, R ^a   Kidron, D ^a   Amiel, A ^a   Fejgin, M ^a   Borochowitz, Z U ^b  

^a MEIR MEDICAL CENTER   (Israel)

^b BNAI ZION MEDICAL CENTER   (Israel)

Author keywords

Cloverleaf skull; Corpus callosum; Lethal skeletal dysplasia; Multiple congenital anomalies; Short long bones

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; BONE DYSPLASIA; BONE RADIOGRAPHY; CARTILAGE CELL; CARTILAGE DEGENERATION; CASE REPORT; CATARACT; CLAVICLE; CONSANGUINITY; CORPUS CALLOSUM AGENESIS; EAR MALFORMATION; EPIPHYSIS; FAMILIAL DISEASE; FEMALE; FETUS; GENITAL MALFORMATION; HAND MALFORMATION; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPERTELORISM; LETHALITY; LIMB MALFORMATION; MALE; MEDICAL DOCUMENTATION; METAPHYSIS; MICROPHTHALMIA; MORPHOLOGY; MOSLEM; MULTIPLE MALFORMATION SYNDROME; PRIORITY JOURNAL; PUBIC BONE; RIB MALFORMATION; SAUDI ARABIA; SCAPULA; SHORT SURVEY; SKULL MALFORMATION; THORAX MALFORMATION; VERTEBRA MALFORMATION;

ABNORMALITIES, MULTIPLE; BRAIN; CONSANGUINITY; CRANIOFACIAL ABNORMALITIES; EYE ABNORMALITIES; FEMALE; FETAL DEATH; FETUS; GENES, RECESSIVE; HEART DEFECTS, CONGENITAL; HUMANS; MALE; PEDIGREE; SKULL; SYNDROME;

EID: 0036590309     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.610509.x     Document Type: Short Survey

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