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.

Download full-text PDF

Source

Publication Analysis

Top Keywords

[oto-palato-digital type
4
type syndrome
4
syndrome generations
4
generations relationship
4
relationship type
4
type form]
4
form] three
4
three cases
4
cases oto-palato-digital
4
oto-palato-digital syndrome
4

Similar Publications

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.

View Article and Find Full Text PDF

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 PDF

Clinical Experience of Treatment of Facial Malformations in Oto-Palato-Digital Syndrome: A Familial Patient.

J 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.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!