PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “MOUTH ABNORMALITIES”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 379 records · Page 21Linked to original sources
PubMed1992

Setleis (bitemporal 'forceps marks') syndrome in a German family: evidence for autosomal dominant inheritance.

The Setleis syndrome is a rare disorder characterized by predominantly facial findings, including bitemporal skin changes resembling forceps marks. Autosomal recessive inheritance of this distinct condition has been proposed. We report on a typically affected German boy whose father shows a much milder expression, thus suggesting autosomal dominant inheritance.

Abnormalities, Multiple↗
PubMed1991

[Fetal alcohol syndrome--case report].

Clinical picture of the fetal alcohol syndrome (FAS) is described by the example of three girls aged 9, 11 and 11 years. Besides mild to moderate mental retardation, all the three girls had a number of physical anomalies characteristic of FAS. Inheritance as the possible cause of these defects was ruled out by genetic testing. Low birth weight, delay in the postnatal growth and development, microcephaly, hypertelorism, malformed and low-positioned auricles, as well as skeletal alterations, were observed in the three girls. In two of them, epicanthus, strabismus, microphtalmia, gothic palate, crossbite and arachnodactyly were also found. Progenia, cleft palate, aplasia of the uvula, wide root of the nose, saddle nose, enamel hypoplasia, dermatoglyphic alterations, and cutaneous syndactyly and clinodactyly of the fifth finger were recorded in single cases each. One girl suffered from epilepsy. The orofacial region is especially affected in children with FAS, which necessitates specific dental care. Due to decreased intellectual abilities of such children, their treatment is particularly difficult and requires specific approach and methods of work.

Abnormalities, Multiple↗
PubMed1986

Popliteal pterygium syndrome.

Popliteal pterygium syndrome is rare, with 50 cases described in the literature. Three additional cases are reported. The syndrome includes a popliteal web extending from the ischium to the heel associated with toenail dysplasia, eventual deformities of the foot and toes, and oral cavity abnormalities, such as cleft palate or lip pits. The main orthopedic problem is a severe flexion contracture of the knee and an equinus foot. Surgical treatment consists of resection of the web. A technical problem emerges on liberating or reconstructing the sciatic nerve or its branches, which are sometimes included within the contracted cord.

Abnormalities, Multiple↗
PubMed1996

Campomelic dysplasia associated with mandibular clefting.

Campomelic dysplasia (CD), is a lethal dwarfism of the newborn, characterised by rhizomelic dwarfism, bowed femora and tibiae, associated with other skeletal and extraskeletal defects. It is suggested that there are long-limbed and short-limbed varieties. Various clinical and radiological anomalies have been described in both types of CD. Here, we describe for the first time a cleft in the mandibula in a patient with campomelic dysplasia.

Abnormalities, Multiple↗
PubMed1992

Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: report of a Brazilian family.

We report on a Brazilian woman, born to consanguineous (first cousin) parents (F = 1/16) and presenting cleft lip/palate, ectodermal dysplasia, interdigital webbing, and other malformations. Parental consanguinity and possible recurrence in sibs suggest autosomal recessive inheritance. The nosologic aspects with the Martinez syndrome and with the Zlotogora-Ogur syndrome are discussed.

Abnormalities, Multiple↗