Popliteal peterigion (Web) syndrome, a rare heritable disease of multiple anomalies; characterized by hard sclerotic areas extending from the sole of the feet up to ischiatic tuberosity along the posterior aspect of lower exteremities at the midline.  Varients of this syndrome with different severity are reported: severcre of which present in addition to cardinal feature; palpebral adhesions, s...

BACKGROUND Limb anomalies rank behind congenital heart disease as the most common birth defects observed in infants. More than 50 classifications for limb anomalies based on morphology and osseous anatomy have been drafted over the past 150 years. The present work aims to provide a concise summary of the most common congenital limb anomalies on a morpho-etiological basis. PATIENTS AND METHODS...

Diprosopus is an extremely rare form of conjoined twins which found in newborns where there partial or complete duplication face. The etiology and pathophysiology remain unknown no genetic mutations have definitively associated with the condition so far. This article described a case infant born at 33.4 weeks gestation multiple congenital anomalies including diprosopus tetraophthalmos discussed...

In 1976, Gonzales-Crussi et al. (Am. J. Dis. Child. 130:1015-18, 1976) introduced the first case of bridging bronchus as a rare bronchial branching anomaly; since then, only 14 worldwide cases was described. We suggest our case might be number 15 and could be the first case of type six of this bronchial anomaly. We present a case of a 10-month-old infant with bridging bronchus, congenital trach...

We report a case of a male infant who presented with congenital anomalies and was found to have a de novo deletion in the terminal region of the long arm of chromosome 9. He died at the age of 17 weeks of cardiorespiratory failure owing to RSV positive bronchiolitis. A review of previously published reports documented one previous report of a patient with a deletion of (9)(q34.3) and multiple c...

Direct sagittal computed tomography (CT) and metrizamide myelography, in addition to standard axial CT, have proven most useful in evaluation of complex anomalies of the infant spine. Direct sagittal CT was performed by placing the entire infant sideways and supine within the gantry after metrizamide was injected. This technique was performed in six infants with diagnoses of lipoma with dysraph...

Introduction Gastroschisis is considered to be an isolated abdominal wall defect that is infrequently associated with other anomalies. Case This case describes an infant with gastroschisis who developed refractory shock after an uncomplicated surgery for bowel atresia. He was found to have adrenal insufficiency secondary to septo-optic dysplasia with panhypopituitarism. Conclusion Gastroschisis...

Here we report the first case of a Korean infant with a cloverleaf-shaped craniosynostosis, in which the diagnosis of Beare-Stevenson syndrome was suspected upon observation of the typical morphological features. This infant exhibited craniofacial anomalies, ocular proptosis, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, hypospadia, and sacral skin tag...

Congenital heart disease (CHD) is a leading cause of infant mortality, with an estimated incidence of about 4–13 per 1000 live births1–3. Between 1950 and 1994, 42% of infant deaths reported to the World Health Organization were attributable to cardiac defects4. Structural cardiac anomalies were also among the most frequently missed abnormalities by prenatal ultrasonography5,6. Prenatal detecti...