Mucopolysaccharidosis type II (Hunter syndrome) – A case report.

Hunter syndrome or mucopolysaccharidosis (MPS) type II is an X-linked recessive disorder caused by a defect in the metabolism of glycosaminoglycans (GAGs). We present a rare case of MPS with a typical presentation of coarse facies, short stature, mild mental retardation and absence of corneal clouding. His radiographic findings were suggestive of MPS and diagnosis was confirmed by demonstrating deficient Iduronate-2-sulphatase enzyme in plasma. We present this case to highlight the distinctive manifestations as well as radiological and definitive diagnostic findings of the Hunter syndrome.

Oculo-facio-cardio-dental syndrome in a girl and her mother.

Congenital heart defects are known to be associated with facial dysmorphism and other congenital anomalies. Oculo-facio-cardio-dental (OFCD) syndrome is one such rare multiple congenital anomaly syndrome inherited as an X-linked dominant condition characterized by congenital cataracts, multiple minor facial dysmorphic features, congenital heart defects and dental anomalies. It is unrecognized by many medical and dental professionals. Only 21 cases have been reported so far. This syndrome is often misrecognized as rubella embryopathy because of association of congenital cataract with cardiac anomalies. It is usually the orthodontists who diagnose the syndrome based on typical findings on dental panoramic radiographs. But we suspected our patient to be having OFCD syndrome based on typical facial dysmorphism, ocular and cardiac defects, and finally it was confirmed after noticing typical dental radiographic findings.

A case of mosaic ring chromosome 13 syndrome / 소아과

The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we report a case with mosaic ring chromosome 13. The baby boy was born at 37 weeks of gestation by induced vaginal delivery due to intrauterine growth restriction (IUGR). He was the second baby of a 28-year-old hepatitis B carrier mother and a 32-year-old father. There was no family history of chromosomal anomalies. The baby was a symmetric IUGR with a birth weight of 1,860 g, length of 44.8 cm, and head circumference of 29.4 cm. The physical examination revealed microcephaly, trigonocephaly, flat occiput, large ears, short neck and dysmorphic facial features, including microophthalmia, hypertelorism, antimongoloid slanting palpebral fissures, a flat nasal bridge, and micrognathia. The karyotype of this patient performed by peripheral blood lymphocytes was 46,XY,r(13)(p13q34)/45,XY,-13/46,XY,dic r(13;13)(p13q34;p13q34). The baby showed failure to thrive, hypotonia, and developmental delay. We report the first case of mosaic ring chromosome 13 in a male baby in Korea and compare this case with other Korean cases of non-mosaic ring chromosome 13.

A Case of Duplication 9q Syndrome

Since the first description of the trisomy 9p in 1970, over one hundred cases have been described with the advanced chromosomal banding technique. Clinical findings include growth and mental retardation and facial dysmorphism. Crucial determinants of the classical features of this syndrome lie within the distal half of the chromosome 9 short arm. But this syndrome has not been reported in Korea, we are reporting a boy diagnosed by clinical features and chromosomal study that is trisomic for a partial short arm of a chromosome 9. A brief review of the literature is included.