Three cases of oto-palato-digital syndrome (OPD) are described. They are from the same family, in which the syndrome is an X linked recessive disorder, transmitted through five generations. These cases are classified rather in the OPD type I. The limit between OPD I and II is discussed. The hypothesis of two allelic genes is suggested.
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Pediatr Int
January 2022
Department of Pediatrics, Faculty of Medical Sciences, University of Fukui, Fukui, Japan.
Congenit Anom (Kyoto)
May 2021
Department of Plastic and Reconstructive Surgery, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Acta Otorrinolaringol Esp (Engl Ed)
February 2020
Department of Otorhinolaryngology, University of Navarra Hospital and Medical School, Pamplona, Spain. Electronic address:
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.
View Article and Find Full Text PDFJ Craniofac Surg
June 2017
*Department of Plastic, Reconstructive and Aesthetic Surgery, Faculty of Medicine, Chiba University, Chiba †Department of Orthodontics, St Mary's Hospital, Fukuoka, Japan.
Oto-palato-digital syndrome type 1 (OPD1) is an X-linked recessive disorder comprising characteristic facial appearances and skeletal alterations. The authors report OPD1 in a mother and her 2 sons who had multiple common congenital anomalies. Both of the brothers were born with mild hearing impairment, frontal bossing with prominent supraorbital ridges, downslanting palpebral fissures, dental malocclusion, and palatal clefts.
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