Otodental syndrome: a case presentation in a 6-year old child.

BACKGROUND: Otodental syndrome is a rare condition characterised by globodontia, and sensorineural high frequency hearing loss. To date, only 20 cases of otodental syndrome have been reported. CASE REPORT: A 6 year-old girl presented with a chief complaint of delay in the eruption of primary canines. Following clinical, radiographic and audiologic evaluations, the patient was diagnosed with otodental syndrome. CONCLUSION: Globodontia is a diagnostic feature of the otodental syndrome, which often provides the path to discovery of the associated hearing loss. Missing teeth, arch-size discrepancies, chewing problems and teething disturbances are the other major complications.

NRAS Mutations in Noonan Syndrome.

Noonan syndrome is a genetically heterogeneous disorder caused by mutations in PTPN11, SOS1, RAF1 and less frequently in KRAS, NRAS or SHOC2. Here, we performed mutation analysis of NRAS and SHOC2 in 115 PTPN11, SOS1, RAF1, and KRAS mutation-negative individuals. No SHOC2 mutations were found, but we identified 3 NRAS mutations in 3 probands. One NRAS mutation was novel. The phenotype associated with germline NRAS mutations is variable. Our results confirm that a small proportion of Noonan syndrome patients carry germline NRAS mutations.

Two cases with partial trisomy 9: cytogenetic and clinical findings.

Partial trisomy syndrome of chromosome 9 is one of the frequent autosomal trisomies with a well defined phenotype. Here we report two cases with different karyotypes and we aim to compare the phenotypic findings. The first case was an 8.5 months old boy with developmental delay. He had mental and motor retardation, microcephaly, bilateral undescended testes and multiple minor malformations. The karyotype was 46,XY,-7,der(7)t(7;9)(q36;p12) pat. The second case was a 5 year old boy with mental and motor retardation. He had atypical facial appearance with bilateral undescended testes. The karyotype was reported as 47,XY,+del(9)(q22.1 qter)dn[46]/ 46,XY[4]. Partial trisomy 9 syndrome has a wide range of clinical findings depending on the size of the trisomic chromosome segment. Newly diagnosed cases and their chromosome findings will add to the understanding of the syndrome.

Thoracoschisis associated with diaphragmatic hernia in a 31-week-old stillbirth.

Thoracoschisis is a very rare congenital anomaly and is frequently found with other congenital defects the of limbs and the abdominal wall as a part of limb-body wall complex (LBWC). Early vascular disruption, amnion rupture and intrinsic embryonic maldevelopment are related to the pathogenesis of this complex. We present a case of thoracoschisis with ipsilateral diaphragmatic hernia. This case had none of the associated anomalies which are seen in LBWC. By ultrasonography performed at 31 weeks' gestation the fetus was misdiagnosed as gastroschisis. In this report we discuss the pathogenetic mechanism of LBWC and our case.

A family with Jeune syndrome.

Jeune syndrome is a rare autosomal recessive disease characterized by narrow thoracic cage and short-limbed dwarfism. Seventy percent of affected individuals die in early childhood from pulmonary hypoplasia and respiratory distress due to the small size of the thorax. Growth retardation and chronic renal insufficiency due to nephronophthisis may occur in patients who survive the respiratory failure. We report a family that exhibited clinically heterogeneous features of Jeune syndrome. The 6-year-old male proband presented with skeletal deformities and chronic renal failure. A kidney biopsy revealed that nephronophthisis was the cause of the patient's kidney failure, and we diagnosed Jeune syndrome. A retrospective diagnosis of Jeune syndrome was also established for the proband's older sister, who had died of renal failure at 8 years of age. The oldest female child in the family also had thoracic deformity, and the father and paternal uncle were both of short stature and exhibited brachydactyly. Their renal function and blood pressure were normal. The findings in this family are important in that they demonstrate the clinical heterogeneity of Jeune syndrome and underline the association of renal disease with this syndrome.

Popliteal pterygium associated with neonatal Marfan syndrome: case report.

This report describes the case of a male infant with neonatal Marfan syndrome who also exhibited popliteal pterygia. The patient's father had classic Marfan syndrome. The differential diagnosis in the neonatal case included congenital contractural arachnodactyly (Beals syndrome) and various forms of popliteal pterygium syndrome. We note the diagnostic features of the case, discuss the novel finding of pterygia in association with neonatal Marfan syndrome, and highlight the possible role of collagen defects in the pathogenesis of limb pterygia.