Blepharophimosis, hypoplastic radius, hypoplastic left heart, telecanthus, hydronephrosis, fused metacarpals, and "prehensile" halluces: A new syndrome?

• Published in: American journal of medical genetics 1998-12, Vol.80 (4), p.309-313
• Main Authors: Day-Salvatore, Debra, McLean, David
• Format: Article
• Language: English
• Subjects: "prehensile" halluces; Adult; Biological and medical sciences; blepharophimosis; Blepharophimosis - complications; Blepharophimosis - pathology; cleft palate; Complex syndromes; Diagnosis, Differential; Eye Abnormalities - complications; Eye Abnormalities - pathology; Eyelids - abnormalities; Female; Foot Deformities, Congenital - complications; Foot Deformities, Congenital - pathology; fused metacarpals; Hallux - abnormalities; Hand Deformities, Congenital - complications; Hand Deformities, Congenital - pathology; Heart Defects, Congenital - complications; Heart Defects, Congenital - pathology; Humans; Hydronephrosis - complications; Hydronephrosis - pathology; hypoplastic left heart (HLH); hypoplastic radii and ulnae; Infant; Infant, Newborn; Medical genetics; Medical sciences; Pregnancy; Radius - abnormalities; Syndrome; telecanthus
• ISSN: 0148-7299; 1096-8628
• DOI: 10.1002/(SICI)1096-8628(19981204)80:4<309::AID-AJMG2>3.0.CO;2-J

We report on the prenatal ultrasound and postnatal findings in an infant born to a healthy, nonconsanguineous couple. The infant had microcephaly, telecanthus, blepharophimosis, cleft palate, micrognathia, abnormally modeled ears, hypoplastic left heart, hypoplastic radii and ulnae with radial subluxation, pseudoarthrotic distal humeri, fused metacarpals, tibial bowing, unusual feet with long halluces, hydronephrosis, patent urachus, abnormal electroencephalogram, and normal karyotype. To our knowledge, this combination of anomalies has not been recognized previously and may represent a new condition. Am. J. Med. Genet. 80:309–313, 1998. © 1998 Wiley‐Liss, Inc.