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PP-192. Fraser syndrome in a newborn
S94
Abstracts
NICU of a tertiary level hospital was conducted. The study group was classified into three groups having no ROP, mild ROP (stage 1–2), and severe ROP (≥stage 3). Risk factors for severe ROP were analyzed in logistic regression model.
abdominal tomography was requested and showed a gross cyst which might be originating from the stomach. Gastric outlet obstruction was confirmed at surgical repair and pyloric atresia was demonstrated. The infant developed progressive respiratory distress, which was later complicated by renal failure, and he died on the tenth postnatal day.
Results Of the 700 neonates screened, the frequency of ROP was 32.7% for any stage and 3.1% for ≥stage 3. Treatment was needed in 9.6% of neonates with ROP. No treatment was required in neonates with a GA ≥31 weeks. Any ROP was detected in 199 (53.6%) of the babies <32 weeks (n = 371), 22 (5.9%) of whom were treated with laser photocoagulation. In babies with a GA 32–34 weeks (n = 329), none of the 30 (13.1%) cases with ROP required therapy. Independent risk factors for severe ROP in babies <32 weeks GA were birth weight, duration of mechanical ventilation, sepsis, and patent ductus arteriosus (PDA). Conclusions This is the largest prospective cohort study including infants smaller than 34 weeks GA reported from our country. Our data which belongs to the last one year period shows lower incidence of severe ROP than previously reported from Turkey. According to our data screening babies smaller than 32 weeks GA or 1500 g birth weight seems reasonable. In the presence of long duration of mechanical ventilation, sepsis and PDA screening should be intensified. doi:10.1016/j.earlhumdev.2010.09.245
PP-191. Barts syndrome with congenital pyloric atresia in a newborn mimicking a large intraabdominal cyst Dilek Cobana, Mustafa Ali Akına, Mehmet Adnan Ozturka, Selim Doganaya, Selim Kurtoğlua,b a Erciyes University, Faculty of Medicine, Department of Pediatrics, Turkey b Department of Radiology, Turkey Aim Barts syndrome is a rare inherited condition characterized by epidermolysis bullosa and congenital absence of skin. Congenital pyloric atresia is a very rare condition and its incidence is approximately 1 in 100,000 newborns. Commonly, it occurs in isolation, but associated anomalies are also commonly seen in 40–50% of the cases, and epidermolysis bullosa is the most common one. We herein report a newborn diagnosed to have both Barts syndrome and congenital pyloric atresia. Case presentation A male preterm infant was born to a 26-year-old mother by normal vaginal delivery at the 33rd gestational week. The parents were first cousins. Prenatal ultrasonography had revealed polyhydramnios. On physical examination the infant had no skin on the nose, ear and lower extremities, and localized absence of the skin on the arms. Other anomalies demonstrated were malformed pinnae fused to the lateral scalp, hypoplastic nasal alae, hypersalivation and a marked abdominal distention. Some of the congenital erosions were sharply demarcated with a smooth glistening surface and contained prominent blood vessels. The epidermis peeled off with minimal trauma. Nasogastric catheter was not progressed to the stomach. Abdominal radiography demonstrated distension of the stomach and a lack of air in the intestine. Abdominal ultrasonography revealed a gross cyst with septae. An
Conclusion The coexistence of Barts syndrome and congenital pyloric atresia is rare. The outcome of such an association is universally fatal. We herein present such a case due to its rarity.
doi:10.1016/j.earlhumdev.2010.09.246
PP-192. Fraser syndrome in a newborn Dilek Cobana, Mustafa Ali Akina, Yılmaz Secilmisa, Selim Kurtoglua, Cem Evereklioglub a Erciyes University, Faculty of Medicine, Department of Pediatrics, Turkey b Department of Ophthalmology, Turkey Aim Fraser syndrome is a rare genetic disorder characterized with major features including cryptophthalmos, syndactyly and genital anomalies. These patients also frequently have malformations of the ears, nose and/or larynx. Treatment is dependent on related malformations. Prognosis is related with the severity of renal and laryngeal malformations. We herein present a newborn diagnosed to have Fraser syndrome.
Case presentation A 12-day-old female newborn was admitted to our unit because of eyelid anomalies. The patient was born by vaginal delivery following an uneventful pregnancy at term, and was the first child from healthy consanguineous parents. The physical findings included cryptophthalmos, absence of eyelids and eyelashes, bilateral hand and foot syndactyly, malformed ears, wide based and with midline groove nose, high arched palate, and micrognathia. She had a mild respiratory distress and stridor, and a laryngeal web was detected. Ultrasonographic evaluation demonstrated right kidney agenesis and presence of uterus. Echocardiography revealed patent foramen ovale. Magnetic resonance imaging showed retardation of myelinization of the brain with respect to the gestational age. Caryotype analysis is yet to be reported. The infant later underwent lid reconstruction surgery. Conclusion Fraser syndrome is an autosomal recessive disorder, and the risk of recurrence is 25%. Although the diagnosis is usually made at birth on the basis of obvious malformations, it is occasionally made on the findings of prenatal ultrasonography. Therapeutic options among survivors are corrective oculoplastic and corneal surgery, use of artificial tears, genital and digital correction, and cosmetic surgery. Genetic counseling should be provided in order to prevent the recurrence and decrease mortality and morbidity.
doi:10.1016/j.earlhumdev.2010.09.247
Abstracts
NICU of a tertiary level hospital was conducted. The study group was classified into three groups having no ROP, mild ROP (stage 1–2), and severe ROP (≥stage 3). Risk factors for severe ROP were analyzed in logistic regression model.
abdominal tomography was requested and showed a gross cyst which might be originating from the stomach. Gastric outlet obstruction was confirmed at surgical repair and pyloric atresia was demonstrated. The infant developed progressive respiratory distress, which was later complicated by renal failure, and he died on the tenth postnatal day.
Results Of the 700 neonates screened, the frequency of ROP was 32.7% for any stage and 3.1% for ≥stage 3. Treatment was needed in 9.6% of neonates with ROP. No treatment was required in neonates with a GA ≥31 weeks. Any ROP was detected in 199 (53.6%) of the babies <32 weeks (n = 371), 22 (5.9%) of whom were treated with laser photocoagulation. In babies with a GA 32–34 weeks (n = 329), none of the 30 (13.1%) cases with ROP required therapy. Independent risk factors for severe ROP in babies <32 weeks GA were birth weight, duration of mechanical ventilation, sepsis, and patent ductus arteriosus (PDA). Conclusions This is the largest prospective cohort study including infants smaller than 34 weeks GA reported from our country. Our data which belongs to the last one year period shows lower incidence of severe ROP than previously reported from Turkey. According to our data screening babies smaller than 32 weeks GA or 1500 g birth weight seems reasonable. In the presence of long duration of mechanical ventilation, sepsis and PDA screening should be intensified. doi:10.1016/j.earlhumdev.2010.09.245
PP-191. Barts syndrome with congenital pyloric atresia in a newborn mimicking a large intraabdominal cyst Dilek Cobana, Mustafa Ali Akına, Mehmet Adnan Ozturka, Selim Doganaya, Selim Kurtoğlua,b a Erciyes University, Faculty of Medicine, Department of Pediatrics, Turkey b Department of Radiology, Turkey Aim Barts syndrome is a rare inherited condition characterized by epidermolysis bullosa and congenital absence of skin. Congenital pyloric atresia is a very rare condition and its incidence is approximately 1 in 100,000 newborns. Commonly, it occurs in isolation, but associated anomalies are also commonly seen in 40–50% of the cases, and epidermolysis bullosa is the most common one. We herein report a newborn diagnosed to have both Barts syndrome and congenital pyloric atresia. Case presentation A male preterm infant was born to a 26-year-old mother by normal vaginal delivery at the 33rd gestational week. The parents were first cousins. Prenatal ultrasonography had revealed polyhydramnios. On physical examination the infant had no skin on the nose, ear and lower extremities, and localized absence of the skin on the arms. Other anomalies demonstrated were malformed pinnae fused to the lateral scalp, hypoplastic nasal alae, hypersalivation and a marked abdominal distention. Some of the congenital erosions were sharply demarcated with a smooth glistening surface and contained prominent blood vessels. The epidermis peeled off with minimal trauma. Nasogastric catheter was not progressed to the stomach. Abdominal radiography demonstrated distension of the stomach and a lack of air in the intestine. Abdominal ultrasonography revealed a gross cyst with septae. An
Conclusion The coexistence of Barts syndrome and congenital pyloric atresia is rare. The outcome of such an association is universally fatal. We herein present such a case due to its rarity.
doi:10.1016/j.earlhumdev.2010.09.246
PP-192. Fraser syndrome in a newborn Dilek Cobana, Mustafa Ali Akina, Yılmaz Secilmisa, Selim Kurtoglua, Cem Evereklioglub a Erciyes University, Faculty of Medicine, Department of Pediatrics, Turkey b Department of Ophthalmology, Turkey Aim Fraser syndrome is a rare genetic disorder characterized with major features including cryptophthalmos, syndactyly and genital anomalies. These patients also frequently have malformations of the ears, nose and/or larynx. Treatment is dependent on related malformations. Prognosis is related with the severity of renal and laryngeal malformations. We herein present a newborn diagnosed to have Fraser syndrome.
Case presentation A 12-day-old female newborn was admitted to our unit because of eyelid anomalies. The patient was born by vaginal delivery following an uneventful pregnancy at term, and was the first child from healthy consanguineous parents. The physical findings included cryptophthalmos, absence of eyelids and eyelashes, bilateral hand and foot syndactyly, malformed ears, wide based and with midline groove nose, high arched palate, and micrognathia. She had a mild respiratory distress and stridor, and a laryngeal web was detected. Ultrasonographic evaluation demonstrated right kidney agenesis and presence of uterus. Echocardiography revealed patent foramen ovale. Magnetic resonance imaging showed retardation of myelinization of the brain with respect to the gestational age. Caryotype analysis is yet to be reported. The infant later underwent lid reconstruction surgery. Conclusion Fraser syndrome is an autosomal recessive disorder, and the risk of recurrence is 25%. Although the diagnosis is usually made at birth on the basis of obvious malformations, it is occasionally made on the findings of prenatal ultrasonography. Therapeutic options among survivors are corrective oculoplastic and corneal surgery, use of artificial tears, genital and digital correction, and cosmetic surgery. Genetic counseling should be provided in order to prevent the recurrence and decrease mortality and morbidity.
doi:10.1016/j.earlhumdev.2010.09.247