Affiliation: University of Chieti
- Confirmation of the colobomatous macrophthalmia with microcornea syndrome: report of another familyR Pallotta
Center for Diagnosis, Prevention and Care of Birth Defects, Department of Medicine, G D Annunzio University, Chieti, Italy
Am J Med Genet 76:252-4. 1998..The recurrence of this distinctive ocular pattern in our opinion confirms the existence of a new syndrome, with autosomal dominant inheritance...
- Kyphomelic dysplasia: clinical and radiologic long-term follow-up of one case and review of the literatureR Pallotta
Department of Medicine and Aging Sciences, G d Annunzio University School of Medicine, Chieti, Italy
Radiology 212:847-52. 1999....
- Occurrence of Dandy-Walker anomaly in a familial case of distal arthogryposis type IIBR Pallotta
Regional Service for Diagnosis, Prevention and Care of Birth Defects, Department of Medicine, Section of Preventive and Social Pediatrics, G D Annunzio University, Chieti, Italy
Am J Med Genet 95:477-81. 2000..The coincidental finding of Dandy-Walker anomaly in the proposita arouses the question whether Dandy-Walker anomaly is part of the DA IIB spectrum or whether the Aase-Smith syndrome belongs to the DA spectrum...
- A patient defines the interstitial 1q deletion syndrome characterized by antithrombin III deficiencyR Pallotta
Regional Service for Diagnosis, Prevention and Care of Birth Defects, Department of Medicine, G D Annunzio University, Chieti, Italy
Am J Med Genet 104:282-6. 2001..We performed a review of the literature on proximal and intermediate deletion 1q syndrome, and we hypothesize the existence of only one 1q interstitial deletion syndrome, clinically characterized by ATIII deficiency...
- A case of multiple vertebral segmentation defects, unilateral renal agenesis, and an unusual 'Cooley-like' hand appearanceRosanna Pallotta
Regional Service for Diagnosis, Prevention and Care of Birth Defects, Department of Medicine and Aging Sciences, Section of Preventive and Social Pediatrics, G D Annunzio University, Chieti, Italy
Clin Dysmorphol 16:157-61. 2007..The extended skeletal involvement raises the question as to how this case is classified within this heterogeneous group of disorders and we believe this might represent a new and distinct entity...
- Neonatal suppurative parotitis: a study of five casesG Sabatino
Neonatal Intensive Care Unit, University of Chieti, Italy
Eur J Pediatr 158:312-4. 1999..52 (0.62-49.35). Staphylococcus aureus was the causative organism most commonly detected in the hospital-acquired cases. Antimicrobial therapy was effective in all cases; surgery was not required...
- Classical lissencephaly associated with dolichocephaly, hair and nail defectClaudio Celentano
Department of Medicine and Aging, Section of Obstetric and Gynecology, Nuovo Policlinico, University G D Annunzio, Medical School, University of Chieti, Chieti, Italy
Brain Dev 28:392-4. 2006..Because previously reported cases were not associated with the features described in our proband, they might represent a newly identified condition...
- Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/CGiuseppe Novelli
Department of Biopathology and Diagnostic Imaging, Faculty for Medicine and Surgery, University of Rome Tor Vergata, Via Montpellier 1, 00133 Romea, Italy
Am J Hum Genet 71:426-31. 2002..Patient skin fibroblasts showed nuclei that presented abnormal lamin A/C distribution and a dysmorphic envelope, thus demonstrating the pathogenic effect of the R527H LMNA mutation...
- Wiedemann-Rautenstrauch or trichorhinophalangeal syndrome?Rosanna Pallotta
Pediatr Dermatol 22:573; author reply 573-4. 2005