BACKGROUND Chromosomal region 7q21.3 comprises approximately 5.2 mega base pairs that include genes DLX5/6, SHFM1, and DYNC1I1 associated with split hand/split foot malformation 1. So far, there are reports of eight families with deletion of DYNC1I1 and preserved DLX5/6 associated with ectrodactyly. From these families, only three patients did not present ectrodactyly and, unlike our patient, n...

Jacobsen syndrome is a genetic disorder caused by partial deletion of the long arm of chromosome 11. Less than 300 cases have been reported, with some being diagnosed as late as the 4 decade of life. Clinical features include growth and psychomotor delay, characteristic facial anomalies involving the eyes, nose, mouth and ears, skull deformities, abnormal platelet function, congenital heart def...

A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life. He was born at term by elective caesarian section performed for breech presentation. The child had failure to thrive, contractures at elbow and knee joints, hypertonia, microcephaly, small mouth, retrognathia, and camptodactyl...

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomalies, such as cryptorchidism and hypoplastic labia minora and majora. Typical ...

Juvenile idiopathic arthritis (JIA) belongs to a group of arthritis with unknown etiology that occurs in children under 16 years old. Pathogenesis of this disease proposes the role of autoimmune process which is induced by antigens and results in inflammation of synovials and cartilage [1]. DiGeorge syndrome (DGS) or velo-cardio-facial-syndrome (VCFS) is a genetic disorder due to a defect in 22...

Corresponding author: Cheon-Hee Park, M.D., Department of Anesthesia and Pain Medicine, Gwangju Christian Hospital, 37, Yangnim-ro, Nam-gu, Gwangju 503-715, Korea. Tel: 82-62-650-5154, Fax: 82-62-650-5116, E-mail: [email protected] This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http:// creativecommons.org/licenses/by-nc/3...

Although ring chromosomes are observed in ahnost all autosomal groups in man, they are rare. We describe a male patient exldbiting cd du chat syndrome in which cytogenetic studies demonstrate the presonse of a ring chromosome 5. Deletion o£ the ring chromosome 5 is found between the p15 and q35 bands. Dental, medical and cytogenetic findings are compared to other ring chromosome 5 cases descMbe...

Obstructive sleep apnea (OSA) is a sleep disorder that involves a cessation or a significant decrease in airflow in the presence of breathing effort. It is the most common type of sleep-disordered breathing and it is characterized by recurrent episodes of upper airway collapse during sleep. Several studies have documented a higher prevalence of OSA among patients with Marfan’s syndrome (MFS), w...

~-Yndings ~re reported on 12 members representing five generations of a large family with a history of trichorhinophalangeal syndrome type I. Consistent facial characteristics included; bulbous pear-shaped nose, elongated philtrum, tented alae, scant eyebrows in the temporal portion, large protruding ears and a thin upper tip. Oral findings included; congenital absence of teeth, considerable de...

We report a 13-year-old girl with Loeys-Dietz syndrome (LDS) caused by a known transforming growth factor beta receptor II (TGFBR2) gene mutation, who developed aortic root dilatation and saccular aneurysm of the internal carotid artery. LDS is a rare, autosomal dominant aortic aneurysm syndrome with multisystem involvement. The disease is typically characterized by the triad of arterial tortuo...