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11 results on '"Serra, Gregorio"'

4. Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene

Author

Serra, Gregorio, primary, Antona, Vincenzo, additional, Pace, Maria Rita Di, additional, Giuffrè, Mario, additional, Morgante, Giusy, additional, Piro, Ettore, additional, Pirrello, Roberto, additional, Salerno, Sergio, additional, Schierz, Ingrid Anne Mandy, additional, Verde, Vincenzo, additional, and Corsello, Giovanni, additional

Published
2022
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5. Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome

Author

Serra, Gregorio, primary, Giambrone, Clara, additional, Antona, Vincenzo, additional, Cardella, Francesca, additional, Carta, Maurizio, additional, Cimador, Marcello, additional, Corsello, Giovanni, additional, Giuffrè, Mario, additional, Insinga, Vincenzo, additional, Maggio, Maria Cristina, additional, Pensabene, Marco, additional, and Piro, Ettore, additional

Published
2022
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8. Recommendations on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian Scientific Societies and 4 Parents’ Associations

Author

Serra, Gregorio, primary, Memo, Luigi, additional, Coscia, Alessandra, additional, Giuffré, Mario, additional, Iuculano, Ambra, additional, Lanna, Mariano, additional, Valentini, Diletta, additional, Contardi, Anna, additional, Filippeschi, Sauro, additional, Frusca, Tiziana, additional, Mosca, Fabio, additional, Ramenghi, Luca A., additional, Romano, Corrado, additional, Scopinaro, Annalisa, additional, Villani, Alberto, additional, Zampino, Giuseppe, additional, and Corsello, Giovanni, additional

Published
2021
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11. Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene

Author

Gregorio Serra, Vincenzo Antona, Maria Rita Di Pace, Mario Giuffrè, Giusy Morgante, Ettore Piro, Roberto Pirrello, Sergio Salerno, Ingrid Anne Mandy Schierz, Vincenzo Verde, Giovanni Corsello, Serra, Gregorio, Antona, Vincenzo, Di Pace, Maria Rita, Giuffre, Mario, Morgante, Giusy, Piro, Ettore, Pirrello, Roberto, Salerno, Sergio, Schierz, Ingrid Anne Mandy, Verde, Vincenzo, and Corsello, Giovanni

Subjects
Male, Sclerosis, Case report, Next generation sequencing, OS-CS, Skeletal dysplasia, X-inactivation, Cleft Lip, Tumor Suppressor Proteins, Infant, Newborn, General Medicine, Megalencephaly, Cleft Palate, Codon, Nonsense, Humans, Female, Bone Diseases, Adaptor Proteins, Signal Transducing
Abstract

Background Osteopathia Striata with Cranial Sclerosis (OS-CS), also known as Horan-Beighton Syndrome, is a rare genetic disease; about 90 cases have been reported to date. It is associated with mutations (heterozygous for female subjects and hemizygous for males) of the AMER1 gene, located at Xq11.2, and shows an X-linked pattern of transmission. Typical clinical manifestations include macrocephaly, characteristic facial features (frontal bossing, epicanthal folds, hypertelorism, depressed nasal bridge, orofacial cleft, prominent jaw), hearing loss and developmental delay. Males usually present a more severe phenotype than females and rarely survive. Diagnostic suspicion is based on clinical signs, radiographic findings of cranial and long bones sclerosis and metaphyseal striations, subsequent genetic testing may confirm it. Case presentation Hereby, we report on a female newborn with frontal and parietal bossing, narrow bitemporal diameter, dysplastic, low-set and posteriorly rotated ears, microretrognathia, cleft palate, and rhizomelic shortening of lower limbs. Postnatally, she manifested feeding intolerance with biliary vomiting and abdominal distension. Therefore, in the suspicion of bowel obstruction, she underwent surgery, which evidenced and corrected an intestinal malrotation. Limbs X-ray and skull computed tomography investigations did not show cranial sclerosis and/or metaphyseal striations. Array-CGH analysis revealed normal findings. Then, a target next generation sequencing (NGS) analysis, including the genes involved in skeletal dysplasias, was performed and revealed a de novo heterozygous nonsense mutation of the AMER1 gene. The patient was discharged at 2 months of age and included in a multidisciplinary follow-up. Aged 9 months, she now shows developmental and growth (except for relative macrocephaly) delay. The surgical correction of cleft palate has been planned. Conclusions Our report shows the uncommon association of intestinal malrotation in a female newborn with OS-CS. It highlights that neonatologists have to consider such a diagnosis, even in absence of cranial sclerosis and long bones striations, as these usually appear over time. Other syndromes with cranial malformations and skeletal dysplasia must be included in the differential diagnosis. The phenotypic spectrum is wide and variable in both genders. Due to variable X-inactivation, females may also show a severe and early-onset clinical picture. Multidisciplinary management and careful, early and long-term follow-up should be offered to these patients, in order to promptly identify any associated morbidities and prevent possible complications or adverse outcomes.

Published
2022
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