OBJECTIVE: To explore the clinical phenotype and genetic basis for a Chinese pedigree affected with Oral-facial-digital syndrome type I (OFD1). METHODS: A pedigree with OFD1 who presented at Hebei General Hospital on March 17, 2021 was selected as the subject. Clinical data of the child was collected. Trio-whole exome sequencing (trio-WES) was carried out for the proband and members of her pedigree, and candidate variant was verified by Sanger sequencing. RESULTS: The proband has featured hypotelorism, broad nasal root, flat nasal tip, lobulated tongue, tongue neoplasia, camptodactyly of left fifth finger, syndactyly of right fourth and fifth fingers, and delayed intellectual and language development. Trio-WES revealed that the proband and her daughter, sister and mother have harbored a heterozygous c.224A>G (p.Asn75Ser) variant of the OFD1 gene. The same variant was not found among healthy members from her pedigree. CONCLUSION The c.224A>G (p.Asn75Ser) variant probably underlay the OFD1 in this pedigree. Above discovery has enriched the spectrum of OFD1 gene variants.
Humans ; Female ; Pedigree ; Orofaciodigital Syndromes/genetics* ; East Asian People ; Phenotype ; Heterozygote ; Mutation ; China

Alveolar synechia or syngnathia is a rare anomaly showing soft tissue or bony adhesions between the alveolar ridges of maxilla and mandible. In our review of the world literature, we have identified 68 reports of alvelolar synechia. Most cases describe cleft palate and the term cleft palate and congenital alveolar synechia syndrome was coined by Verdi and 0'neal(1983). Additional anomalies such as cleft lip, micrognathia, microglossia, lower lip pits, ankyloblepharon, and limb anomalies are associated. Related syndromes may include popliteal pterygium syndrome, van der Woude syndrome, and orofaciodigital syndrome. We present a child with congenital alveolar synechia and left unilateral complete cleft lip and palate. The child had difficulty in mouth opening with a maximal anterior jaw opening of 4 mm. The fibrous synechia was resected at the age of 4 months. On dividing the fibrous band, the jaws were distracted to an opening of only 7 mm using finger dilatation. However, the maximal anterior jaw opening by passive dilatation had increased to 19.0 mm after 2 months and up to 23.1 mm after 6 months by stretching exercise of the mandible, so the child could open his mouth successfully.
Child ; Cleft Lip ; Cleft Palate* ; Dilatation ; Extremities ; Fingers ; Humans ; Jaw ; Lip ; Mandible ; Maxilla ; Mouth ; Numismatics ; Orofaciodigital Syndromes ; Palate ; Pterygium ; Tongue Diseases

Alveolar synechia or syngnathia is a rare anomaly showing soft tissue or bony adhesions between the alveolar ridges of maxilla and mandible. In our review of the world literature, we have identified 68 reports of alvelolar synechia. Most cases describe cleft palate and the term cleft palate and congenital alveolar synechia syndrome was coined by Verdi and 0'neal(1983). Additional anomalies such as cleft lip, micrognathia, microglossia, lower lip pits, ankyloblepharon, and limb anomalies are associated. Related syndromes may include popliteal pterygium syndrome, van der Woude syndrome, and orofaciodigital syndrome. We present a child with congenital alveolar synechia and left unilateral complete cleft lip and palate. The child had difficulty in mouth opening with a maximal anterior jaw opening of 4 mm. The fibrous synechia was resected at the age of 4 months. On dividing the fibrous band, the jaws were distracted to an opening of only 7 mm using finger dilatation. However, the maximal anterior jaw opening by passive dilatation had increased to 19.0 mm after 2 months and up to 23.1 mm after 6 months by stretching exercise of the mandible, so the child could open his mouth successfully.
Child ; Cleft Lip ; Cleft Palate* ; Dilatation ; Extremities ; Fingers ; Humans ; Jaw ; Lip ; Mandible ; Maxilla ; Mouth ; Numismatics ; Orofaciodigital Syndromes ; Palate ; Pterygium ; Tongue Diseases