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Natural history of non-lethal Raine syndrome during childhood.
Mameli, Chiara; Zichichi, Giulia; Mahmood, Nasim; Elalaoui, Siham Chafai; Mirza, Adnan; Dharmaraj, Poonam; Burrone, Marco; Cattaneo, Elisa; Sheth, Jayesh; Gandhi, Ajit; Kochar, Gurpreet Singh; Alkuraya, Fowzan Sami; Kabra, Madhulika; Mercurio, Giuseppe; Zuccotti, Gianvincenzo.
Afiliação
  • Mameli C; Department of Pediatrics, Vittore Buzzi Children's Hospital, Department of Biomedical and Clinical Science L. Sacco, Università degli Studi di Milano, Milan, Italy. chiara.mameli@unimi.it.
  • Zichichi G; Department of Pediatrics, Vittore Buzzi Children's Hospital, Università degli Studi di Milano, Milan, Italy.
  • Mahmood N; Department of General Paediatrics, Alder Hey Children's Hospital, Liverpool, UK.
  • Elalaoui SC; Centre de Recherche en Génomique des Pathologies Humaines (GENOPATH), Faculté de Médecine et de Pharmacie, Mohammed V University of Rabat, 10100, Rabat, Morocco.
  • Mirza A; Faculty of Paediatrics, Aga Khan University Hospital, Karachi, Pakistan.
  • Dharmaraj P; Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.
  • Burrone M; Department of Pediatrics, Vittore Buzzi Children's Hospital, Università degli Studi di Milano, Milan, Italy.
  • Cattaneo E; Clinical Genetics Service, V. Buzzi Children's Hospital, Università degli Studi di Milano, Milan, Italy.
  • Sheth J; FRIGE-Institute of Human Genetics, Dept of Biochemical and Molecular Genetics, Ahmadabad, Gujarat, and Unique Hospital, Solapur, India.
  • Gandhi A; FRIGE-Institute of Human Genetics, Dept of Biochemical and Molecular Genetics, Ahmadabad, Gujarat, and Unique Hospital, Solapur, India.
  • Kochar GS; Department of Paediatric Neurology, SPS Hospitals, Ludhiana, Punjab, India.
  • Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Kabra M; Division of Genetics, Department of Paediatrics, AIIMS, New Delhi, India.
  • Mercurio G; Department of Pediatrics, Vittore Buzzi Children's Hospital, Università degli Studi di Milano, Milan, Italy.
  • Zuccotti G; Department of Pediatrics, Vittore Buzzi Children's Hospital, Department of Biomedical and Clinical Science L. Sacco, Università degli Studi di Milano, Milan, Italy.
Orphanet J Rare Dis ; 15(1): 93, 2020 04 16.
Article em En | MEDLINE | ID: mdl-32299476
ABSTRACT

BACKGROUND:

Raine syndrome (RS) is a rare autosomal recessive disorder caused by biallelic loss-of-function mutations of FAM20C. The most common clinical features are microcephaly, exophthalmos, hypoplastic nose and severe midface hypoplasia, leading to choanal atresia. The radiological findings include generalized osteosclerosis and brain calcifications. RS is usually lethal during the neonatal period due to severe respiratory distress. However, there exists a non-lethal RS form, the phenotype of which is extremely heterogeneous. There is paucity of data about clinical course and life expectancy of these patients.

RESULTS:

This is the first description of follow-up features of non-lethal RS patients. Moreover, we present three unpublished cases. There are five Asian and two Arab patients. All were born to consanguineous parents. The most common neonatal comorbidity was respiratory distress secondary to choanal atresia. A variable degree of neurodevelopmental delay was seen in the majority of our cases and seizures and hearing or vision involvement were also frequent. Neurological and orthopedic issues were the most frequent complications seen at follow-up in our group. Persistent hypophosphatemic rickets was the most striking endocrinological manifestation, which was scarcely responsive to therapy with phosphate salts and alfacalcidol. Life expectancy of our patients goes beyond childhood, with the oldest of those described being 18 years old at present.

CONCLUSIONS:

Manifestations of RS in those surviving the neonatal period are being increasingly recognized. Our study supports previous findings and provides clinical and biochemical observations and data from longer follow up. Finally, we propose multidisciplinary follow up for patients with non-lethal RS.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteosclerose / Exoftalmia Limite: Adolescent / Humans / Newborn Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteosclerose / Exoftalmia Limite: Adolescent / Humans / Newborn Idioma: En Ano de publicação: 2020 Tipo de documento: Article