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Results for “Rubinstein-Taybi Syndrome”

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At least 19 recordsLinked to original sources
PubMed1979

Talon cusps: a dental anomaly in the Rubinstein-Taybi syndrome.

Dental casts of fourteen cases of Rubinstein-Taybi syndrome (RTS) were studied. Two exhibited talon cusps, a dental anomaly which is rare in the normal population. Three others exhibited prominent cingula, which were interpreted as representing a tendency toward talon cusp formation. While additional cases should be examined for this anomaly to determine its frequency in RTS, the presence of talon cusps in a suspected case supports that diagnosis. Teeth exhibiting talon cusps are especially prone to caries and often require early treatment if they are to be retained.

Abnormalities, Multiple↗
PubMed1979

Dermatoglyphic findings in Rubinstein-Taybi syndrome.

The dermatoglyphics of seven patients with Rubinstein-Taybi syndrome and their seventeen family members were compared with those of 250 male and 250 female controls. The most striking dermatoglyphic findings of the patients were the increased frequency of arches, decreased frequency of ulnar loops and reduced ridge-counts on the finger-tips, particularly on the thumbs, lower a-b ridge-counts, increased frequency of I, Ir, II loops, e, f, and t'' triradii, decreased frequency of H loops and tb triradii on the palms, increased frequency of If loops, decreased frequency of I loops, f and p triradii on the soles. The relatives of the patients had more radial loops on the finger-tips, I and Hr loops and t' triradii on the palms, II, III, loops, f and z triradii on the soles.

Abnormalities, Multiple↗
PubMed1978

[The Rubinstein-Taybi syndrome (author's transl)].

The clinical picture of the Rubinstein-Taybi syndrome is characterized by mental retardation, broad thumb and large toe, beaky nose, antimongloid lid axis and numerous morphological signs. The patients resemble one another so that in many instances the diagnosis can be made on sight. Three cases are described. The exact differentiation from other abnormalities with mental retardation is important, especially in genetic counselling of the affected families.

Abnormalities, Multiple↗
PubMed1977

[Phenyketonuria associated with Rubinstein-Taybi syndrome, spondylic dysplasia, left vascular shrinking of adrenal gland (author's transl)].

Report of a 10 year old girl, who demonstrated the following diseases independent from each other: Phenylketonuria, Rubinstein-Taybi syndrome, dysplasias of the skeleton, especially dysplasia of the vertebra and finally, left-sided shrinkes adrenal gland, which caused presumably an increased production of androgens with a premature pubarche.

Abnormalities, Multiple↗
PubMed1979

Monozygotic twinning and structural defects.

An excess of structural defects occurs in monozygotic twins compared in dizygotic twins or singletons. The excess is composed of three categories of defects. The first includes defects which are part of the MZ twinning, such as conjoined twins and some amorphous twins. In addition, all early embryonic malformations and malformation complexes such as sirenomelia mc. holoprosencephaly mc. and anencephaly mc are increased in MZ twins. The reason for this association is considered to be the common etiology for both the MZ twinning and the early malformation problem. MZ twins provide an excellent model for appreciating the spectra of particular malformation complexes, since the twins often have different gradations in severity of the same type of structural defect. The finding of both discordant and concordant MZ twins with Goldenhar, de Lange, and Rubinstein-Taybi syndromes suggests that these "syndromes" might be early malformation complexes. The other two categories are considered secondary to the MZ twinning process. The most unique category results from any vascular interchange between the MZ twins. Depending on their nature, vascular connections may give rise to reverse flow with acardiac status in one twin during early development, or to vascular disruptions from a deceased co-twin with intravascular coagulation causing embolization in the surviving co-twin. The latter defects may include microcephaly, porencephalic cysts, hydranencephaly, intestinal atresia, aplasia cutis, and limb amputation. Unequal growth may occur as a result of artery to vein placental anastomoses. The final category is deformations due to crowding in utero during late gestation. These do not differ from those in DZ twins.

Cardiovascular Abnormalities↗