MONOZYGOTIC TWINS DISCORDANT FOR THE OCULO-AURICULO-VERTEBRAL (GOLDENHAR SYNDROME)
نویسندگان
چکیده
منابع مشابه
Monozygotic twins discordant for Goldenhar syndrome.
OBJECTIVE To report on a pair of monozygotic female twins discordant for Goldenhar syndrome. DESCRIPTION The affected twin was a girl, who was delivered by caesarean section at 35 weeks' gestation. Her birth weight was 2,170 g, length 42.5 cm, head circumference 30 cm and her Apgar scores were 3/7. After birth the child developed severe respiratory distress and had to be moved to the neonatal...
متن کاملOculo-auriculo-vertebral (Goldenhar's) syndrome.
Goldenhar's syndrome (Goldenhar, I952) consists of epibulbar dermoids or lipodermoids, auricular appendages, pretragal blind fistulas, and vertebral anomalies. A number of other deformities associated with this condition have been summarized by Bowen, Collum, and Rees (I97I). Our case is presented because of the presence of an aberrant salivary gland in the nose. This complication has not been ...
متن کاملA Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome—OMIM%164210
Goldenhar syndrome is a rare developmental disorder characterised by hemifacial microsomia, epibulbar tumours, ear malformation, and vertebral anomalies. As monozygotic (MZ) twins are believed to be genetically identical, discordance for disease phenotype between MZ twins varies with craniofacial anomalies, cardiac, vertebral, and central nervous system defects sporadically. We report a case of...
متن کاملEar abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).
UNLABELLED Oculo-auriculo-vertebral spectrum (OAVS) is a rare condition characterized by the involvement of the first branchial arches. PURPOSE To investigate the ear abnormalities of a sample of patients with OAVS. MATERIALS AND METHODS The sample consisted of 12 patients with OAVS seen at the Clinical Genetics Unit, UFCSPA/CHSCPA. The study included only patients who underwent mastoid com...
متن کاملGoldenhar syndrome (oculo-auriculo-vertebral dysplasia) in a twin new born baby.
Fhe Oculo-auriculo-vertebral dyspla~ia, described for the first time by Goldenhar 1 is a disorder affecting the structures which develop from I and II branchial archs. It is characterised by epibulbar dermoid cyst and preauricular skin appendages with or without vertebral defects. 2 This syndrome has always been reported in single born babies from India 2-4 but in western literature 3 cases hav...
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ژورنال
عنوان ژورنال: International Archives of Otorhinolaryngology
سال: 2012
ISSN: 1809-9777,1809-4864
DOI: 10.7162/s1809-977720120s1pf-039