Two Filipino children with oromandibular limb hypogenesis spectrum
https://doi.org/10.47895/amp.v51i3.556
- Author:
Mary Ann R. Abacan
1
,
2
;
Richard dL. Quing
3
;
Maria Melanie Liberty B. Alcausin
1
,
2
;
Bernard U. Tansipek
3
;
Eva Maria Cutiongco-Dela Paz
1
,
2
Author Information
1. Department of Pediatrics, College of Medicine and Philippine General Hospital, University of the Philippines Manila
2. Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila
3. Section of Plastic and Reconstructive Surgery, Department of Surgery, College of Medicine and Philippine General Hospital, University of the Philippines Manila
- Publication Type:Case Reports
- Keywords:
OMLHS;
Oromandibular limb hypogenesis syndrome
- MeSH:
Ankyloglossia;
Hanhart syndrome
- From:
Acta Medica Philippina
2017;51(3):239-244
- CountryPhilippines
- Language:English
-
Abstract:
Oromandibular Limb Hypogenesis Spectrum (OMLHS) [OMIM 103300] is a rare disease characterized by congenital defects of the face, mandible, tongue and hypoplastic limbs. The exact etiology remains unknown. We present two Filipino children diagnosed with OLMHS. Patient 1 is a 2-year-old female noted to have micrognathia, sygnathia and hypoplasia of distal extremities. Patient 2 is a 6-year-old male with hypoplastic mandible, micrognathia, micromelia of both lower extremities and syndactyly of hands. The early recognition of this disease is important so that early surgical correction of deformities particularly the hypoplastic mandible be addressed to avoid complications such as respiratory distress and feeding difficulties.
- Full text:556-Article Text-2140-1-10-20191126.pdf
