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At least 433 records · Page 24Linked to original sources
PubMed1997

[Airway difficulty associated with multiple teratisms of the oral cavity in a newborn infant].

A 13-day-old infant with multiple teratisms of the oral cavity was scheduled for resection of the epignathus. Her oral cavity was occupied by large epignathus, submandibular tumor, congenital bifid tongue and cleft palate, but she had no other congenital abnormalities. We anticipated that an endotracheal intubation would be difficult because of the large size of the tumor in relation to the oral cavity. Initially, awake intubation using a standard laryngoscope was attempted. Although a large elastic epignathus did not interrupt the insertion of the curved laryngoscope blade, the hard submandibular tumors protruded from the submaxillary ramport interfered with mid-line management of the laryngoscope. After several attempts of intubation, a better exposure was obtained and she was successfully intubated using a stylet under deep sedation. We recognized that a careful observation of anatomical abnormalities in the oral cavity is important to keep airway in an infant with multiple abnormalities of the oral cavity.

Abnormalities, Multiple↗
PubMed1985

Similarity of effects--experimental hyperthermia as a teratogen and maternal febrile illness associated with oromandibular and limb defects.

Experimental hyperthermia in pregnancy causes oromandibular and limb anomalies. In humans, hyperthermia has been suspected of being teratogenic. Two patients were investigated; both had limb defects and one had oromandibular anomalies. Their mothers had a febrile illness at about the 10th wk of gestation. The similarity of defects produced by experimental hyperthermia and those reported here is striking.

Abnormalities, Multiple↗
PubMed2003

Anaesthetic and airway management in a child with Hanhart's syndrome.

Hanhart's syndrome (oromandibular-limb hypogenesis syndrome) is a rare disease characterized by hypoglossia/aglossia, various distal limb defects and micrognathia. Difficult airway due to micrognathia may complicate anaesthetic management in this syndrome. We describe the anaesthetic management of a child with Hanhart's syndrome undergoing plastic reconstructive surgery.

Abnormalities, Multiple↗
PubMed2003

Clinical manifestations of terminal osseous dysplasia and pigmentary defects in a young girl.

Terminal osseous dysplasia and pigmentary defects is a rare X-linked dominant disorder with prenatal male lethality. Affected females display multiple systemic abnormalities such as limb deformities and pigmented lesions of the face and scalp. Phenotypic expression of the syndrome varies among the affected individuals. In this case report, we describe the syndromic dental and oral abnormalities in a female child aged 3 and 1/2 years. A widened bigonial width of the mandible and a brachyfacial pattern are observed. Intraoral findings include multiple frenulae, shallow mucobuccal fold, hypodontia, conical incisors, and other developmental structural defects.

Abnormalities, Multiple↗
PubMed2001

Identification of the gene for oral-facial-digital type I syndrome.

Oral-facial-digital type 1 syndrome (OFD1 [MIM 311200]) is transmitted as an X-linked dominant condition with lethality in males and is characterized by malformations of the face, oral cavity, and digits, and by a highly variable expressivity even within the same family. Malformation of the brain and polycystic kidneys are commonly associated with this disorder. The locus for OFD1 was mapped by linkage analysis to a 12-Mb interval, flanked by markers DXS85 and DXS7105 in the Xp22 region. To identify the gene responsible for this syndrome, we analyzed several transcripts mapping to the region and found mutations in OFD1 (formerly named "Cxorf5/71-7a"), encoding a protein containing coiled-coil alpha-helical domains. Seven patients with OFD1, including three with familial and four with sporadic cases, were analyzed. Analysis of the familial cases revealed a missense mutation, a 19-bp deletion, and a single base-pair deletion leading to a frameshift. In the sporadic cases, we found a missense (de novo), a nonsense, a splice, and a frameshift mutation. RNA in situ studies on mouse embryo tissue sections show that Ofd1 is developmentally regulated and is expressed in all tissues affected in OFD1 syndrome. The involvement of OFD1 in oral-facial-digital type I syndrome demonstrates an important role of this gene in human development.

Abnormalities, Multiple↗
PubMed1995

Agricultural work during pregnancy and selected structural malformations in Finland.

We studied the relation between birth defects and maternal agricultural work in a nationwide time- and area-matched case-referent series of 1,306 pairs of infants (581 orofacial clefts, 365 central nervous system defects, 360 skeletal defects) obtained through the Finnish Register of Congenital Malformations. We supplemented the Register data, including the mothers' latest and previous pregnancies, diseases, consumption of drugs and alcohol, smoking habits, and the like, with detailed interviews on the mothers' work conditions. When all of the birth defects were pooled and agricultural work was compared with nonagricultural work in the first trimester of pregnancy, the adjusted odds ratio was 1.4 [95% confidence interval (CI) = 0.9-2.0]. For orofacial clefts, the corresponding odds ratio was 1.9 (95% CI = 1.1-3.5). An industrial hygienist's blinded assessment indicated that seven mothers of infants with orofacial clefts and three reference mothers had been exposed to pesticides in agricultural work; the adjusted odds ratio for work with pesticide exposure, when compared with unexposed agricultural work, was 1.9 (95% CI = 0.4-8.3). Exposure to solvents did not explain the observed association.

Abnormalities, Drug-Induced↗