Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: A new form of acrofacial dysostosis syndrome?

Clinical Genetics

Volumn 78, Issue 6, 2010, Pages 570-574

  Zhang, Y ^a   Dai, Y ^a   Liu, Y ^c   Ren, J ^b  

^a CHONGQING MEDICAL UNIVERSITY   (China)

^b JINAN UNIVERSITY   (China)

^c Dongguan Tungwah Hospital   (China)

Author keywords

Candidate gene; Limb anomaly; Mandibulofacial dysostosis; Microtia

Indexed keywords

APGAR SCORE; ARM MALFORMATION; ARTICLE; ARTIFICIAL VENTILATION; ATRESIA; BLEPHAROPHIMOSIS; CASE REPORT; CAUSE OF DEATH; CHROMOSOME 1P; CHROMOSOME 1Q; CHROMOSOME DUPLICATION; CLUBFOOT; COLOBOMA; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL MALFORMATION; DISEASE SEVERITY; EXTERNAL AUDITORY CANAL; EXTERNAL EAR MALFORMATION; EYEBROW; FEMALE; FETUS MALFORMATION; GENE; GENE DUPLICATION; HUMAN; HYPERTELORISM; LEG MALFORMATION; LIMB MALFORMATION; LOWER EYELID; MACROSTOMIA; MANDIBLE HYPOPLASIA; MANDIBULOFACIAL DYSOSTOSIS; MICROGNATHIA; MICROTIA; NAGER ACROFACIAL DYSOSTOSIS; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN; PALPEBRAL FISSURE ANOMALY; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PTOSIS; PYGO2 GENE; UPPER EYELID; VWA1 GENE;

ABNORMALITIES, MULTIPLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL ABNORMALITIES; CRANIOFACIAL DYSOSTOSIS; EAR; HUMANS; INFANT, NEWBORN; LIMB DEFORMITIES, CONGENITAL; MANDIBULOFACIAL DYSOSTOSIS; SYNDROME;

EID: 78149263828     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01427.x     Document Type: Article

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