In July 2011, a 1.82-kg full-term male was delivered by caesarean section at a regional hospital. The parents were a consanguineous Pakistani couple and this was their firstborn. At birth, the baby exhibited generalised ruptured bullae (Fig 1), but there was no family history of any bullous disorder. The boy’s nails were not dystrophic. New blisters continued to develop spontaneously, without a...

The author reviews the clinical and pathological features of sacral agenesis, with emphasis on the resulting neurologic deficits and the association in many cases with maternal diabetes mellitus. The demonstrated wide spectrum genetic defects are reviewed in the context of molecular genetic regulation of ontogenesis of bony and neural spinal structures. Differential diagnosis from meningomyeloc...

Oesophageal atresia (OA) with tracheo‐oesophageal fistula (TOF) is a rare congenital anomaly usually seen in association with the VACTERL spectrum of disorders in neonates.[1] Management of these groups of anomalies is generally an early surgical intervention in most cases. Majority of neonates are managed with a palliative procedure until fit for a definitive surgery.[2] Isolated case reports ...

Atresia, a degenerative process through which many follicles are removed from the growing pool, involves apoptotic changes in the follicular granulosa cells. To identify histochemical markers of early stages of atresia, an in-vivo rat model was used which allowed the study of atresia of pre-ovulatory follicles in a synchronized and chronological order. By blocking the pre-ovulatory luteinizing ...

OBJECTIVE To evaluate the use of topical mitomycin in choanal atresia repair to reduce the development of granulation tissue and cicatrix. DESIGN AND SETTING Retrospective case series in 2 tertiary care centers. PATIENTS Twenty patients with either unilateral or bilateral congenital choanal atresia underwent repair using the transnasal endoscopic approach, the transpalatal approach, or both...

The syndrome of multiple intestinal atresia with immunodeficiency is a rare, invariably fatal congenital disorder. At 16 months of age, a child with this syndrome underwent liver-small bowel transplantation from a 1-of-6 HLA-matched donor. He acquired full enteral tolerance and normal liver function and has never shown evidence of allograft rejection. After mild graft-versus-host disease develo...

Introduction Gastroschisis is a congenital anterior abdominal wall defect, adjacent and usually to the right of the umbilical cord insertion. It occurs as a small, full-thickness periumbilical cleft either immediately adjacent to the umbilicus or separated from it by a strip of skin. This results in herniation of the abdominal contents into the amniotic sac, usually just the small intestine, bu...

Our aim is to present a case with initial diagnosis of non-classified type duodenal atresia operated in our clinic. A patient with prenatally suspected to be duodenal atresia was explored. At laparotomy type 3 duodenal atresia was found between 2nd and 3rd parts of duodenum. In addition, a web was detected distal to the atresic part. Duodenoduodenostomy together with web excision was performed....

INTRODUCTION Congenital choanal atresia is a relatively rare deformity, especially bilateral congenital choanal atresia. We report a case of bilateral congenital choanal atresia in a 22-year-old Chinese man, who was also diagnosed with congenital right accessory nasal deformity, osteoma of his left ethmoid sinus and congenital keratoleukoma of his right eye. CASE PRESENTATION A 22-year-old Ch...