A neonate with denuded skin: Hay--Wells syndrome
- Wiedemann-Rautenstauch Syndrome. NARAYAN, J. P.; GARG, P.; PAREEK, G.; NARAYAN, S. // Indian Pediatrics;Sep2011, Vol. 48 Issue 9, p731
Wiedemann-Rautenstauch (WR) syndrome is a rare autosomal recessive neonatal progeroid syndrome with only few published case reports. We describe a neonate showing clinical features of WR syndrome with peeling of skin, and presented with weak cry and breathing difficulty since birth.
- Pseudo-Bartter syndrome in a neonate on prostaglandin infusion. Vanhaesebrouck, Sofie; Allegaert, Karen; Vanhole, Christine; Devlieger, Hugo; Gewillig, Marc; Proesmans, Willem // European Journal of Pediatrics;2003, Vol. 162 Issue 9, p569
We describe a case of iatrogenic pseudo-Bartter syndrome caused by administration of prostaglandin E[sub 1 ](PGE[sub 1] alprostadil). Although the use of i.v. PGE[sub 1] is a well-established pharmacological therapy in neonates with a ductus-dependent congenital cardiopathy to ensure...
- Acute osteomyelitis of the iliac bone presenting with gluteal syndrome in a newborn. Bulbul, Ali; Okan, Fusun; Yekeler, Ensar; Can, Emrah // European Journal of Pediatrics;Dec2009, Vol. 168 Issue 12, p1529
Acute osteomyelitis in neonates, although rare, represents a diagnostic and therapeutic challenge. We herein report an extremely rare case of congenital nonsyphilitic iliac bone osteomyelitis caused by methicilline-sensitive Staphylococcus aureus and presenting with gluteal syndrome in a...
- Edwards Syndrome In A Neonate From A Developing Country; Reasons For Concern: A Case Report. Oyedeji, Olusola Adetunji; Fadero, Francis Ferdinad; Joel-Medewase, Victor Idowu; Olusola, Elemile Peter; Oyedeji, Gabriel Ademola // Internet Journal of Third World Medicine;2007, Vol. 4 Issue 1, p8
We report the case of a baby boy who was brought by the parents to a Nigerian teaching hospital on the 4th day of life. He had multiple congenital anomalies, the features of which were consistent with Edwards syndrome. The challenges of managing such a child are hereby discussed.
- Newborn presenting with a severe rash. Brien, James // Infectious Diseases in Children;Aug2010, Vol. 23 Issue 8, p8
This article discusses the case of a newborn baby who was admitted to the neonatal intensive care unit for a severe, total-body rash.
- Using case study comparisons to explore genotype-phenotype correlations in WilliamsÂBeuren syndrome. Karmiloff-Smith, A.; Grant, J.; Ewing, S.; Carette, M. J.; Metcalfe, K.; Donnai, D.; Read, A. P.; Tassabehji, M. // Journal of Medical Genetics;Feb2003, Vol. 40 Issue 2, p136
Describes the etiology of Williams-Beuren syndrome. Occurrence of the disease among newborn infants; Detection of cases with an autosomal dominant mode of inheritance; Manifestations of the disease; Examination of two cases at the physical, cognitive, and molecular level.
- Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndrome. Mussa, Alessandro; Ferrero, Giovanni; Ceoloni, Barbara; Basso, Eleonora; Chiesa, Nicoletta; Crescenzo, Agostina; Pepe, Ernesto; Silengo, Margherita; Sanctis, Luisa // European Journal of Pediatrics;Nov2011, Vol. 170 Issue 11, p1407
Beckwith-Wiedemann syndrome is an overgrowth disorder characterized by neonatal macrosomia, abdominal wall defects, macroglossia, renal anomalies, organomegaly, hypoglycemia, and cancer predisposition. Hepatoblastoma is the second most frequent tumor and periodic serum alpha-fetoprotein (Î±FP)...
- Complete absence of rib ossification, micrognathia and ear anomalies: extreme expression of cerebro-costo-mandibular syndrome? Hennekam, Raoul CM; Goldschmeding, Roel // European Journal of Human Genetics;Jan1998, Vol. 6 Issue 1, p71
We describe a newborn with complete absence of ossification of the ribs, extreme micrognathia, absence of external ear canals and the inner ears, and diminished mobility in the upper extremities. It is suggested that this represents an unusually severe expression of the cerebro-costo-mandibular...
- Large destructive facial hemangioma in PHACE syndrome. Nagdeve, N. G.; Mudkhedkar, K. P. // Journal of Indian Association of Pediatric Surgeons;Jul-Sep2009, Vol. 14 Issue 3, p113
We report an infant who presented with large facial hemangioma associated with Dandy-Walker cyst and atrial septal defect. This case is peculiar in that the large facial hemangioma in posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of aorta and other cardiac defects...