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Retinal folds and tracheomalacia in a boy with otopalatodigital syndrome type 2.
Pediatr Int
January 2022
Department of Pediatrics, Faculty of Medical Sciences, University of Fukui, Fukui, Japan.
Cleft lip in oto-palato-digital syndrome type I.
Congenit Anom (Kyoto)
May 2021
Department of Plastic and Reconstructive Surgery, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Otopalatodigital syndrome type I: New temporal bone CT-scan sign in a case with a de novo novel mutation.
Acta Otorrinolaringol Esp (Engl Ed)
February 2020
Department of Otorhinolaryngology, University of Navarra Hospital and Medical School, Pamplona, Spain. Electronic address:
A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in males.
Am J Med Genet A
April 2018
Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Melnick-Needles syndrome (MNS; MIM 309350) is an X-linked skeletal dysplasia caused by mutations in FLNA. Females with the condition present with characteristic facial features, short stature, skeletal anomalies, including poorly modeled and sclerotic bones, and structural abnormalities such as cardiac and urological defects. Previously males were thought to present with either a mild phenotype compatible with life or a severe lethal presentation depending on the maternal phenotype.
View Article and Find Full Text PDFEmergency salpingectomy for ruptured ectopic pregnancy in patient with Melnick-Needles syndrome: a rare otopalatodigital syndrome.
BMJ Case Rep
December 2017
Department of Anaesthesia, National Maternity Hospital, Dublin, Ireland.
Melnick-Needles syndrome (M-NS) is a rare genetic disorder which primarily affects skeletal developments. M-NS may also affect the cardiorespiratory and renal systems. A 35 kg patient presented complaining of abdominal pain.
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