Recognizable patterns of human malformation : genetic, embryologic, and clinical aspects / by David W. Smith.

  • Smith, David W., 1926-1981.
Date:
1976
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Recognizable patterns of human malformation : genetic, embryologic, and clinical aspects / by David W. Smith. Source: Wellcome Collection.

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    в. Very Small Stature, Relatively Proportionate RUBINSTEIN-TAYBI SYNDROME Broad Thumbs and Toes, Slanted Palpebral Fissures, Hypoplastic Maxilla Rubinstein and Taybi set forth this clinical entity in 1963.' More than 114 cases have been reported. ABNORMALITIES Growth. Short stature 79% Retarded osseous maturation 94% Performance. I.Q. 17 to 86. EEG abnormality 60% Cranium. Small 84% Fades. Palpebral fissures slant downward 100% Maxilla hypoplastic with narrow palate 100% Beaked nose with nasal septum extending below alae 68% Epicanthic folds 62% Strabismus 79% Refractive error 58% Auricles low-set and/or malformed 84% Hands and Feet. Broad thumbs with radial angulation and broad toes 100% Other fingers and toes broad 50% Excess dermal ridge patterning in thenar and first interdigital areas of palm 50% Pelvis. Low acetabular angle, ñare to ilia ? Genitalia. Cryptorchidism 100% Skin. Nevus fiammeus 54% OCCASIONAL ABNORMALITIES Skeletal. Prominent forehead, large anterior fontanel, large foramen magnum, parietal foramina, micrognathia, sternal anomalies, unfused arch of first cervical vertebra and other vertebral anomalies, scoliosis, syndac¬ tyly, Polydactyly, clinodactyly of fifth finger. Other. Cataract, coloboma, ptosis of eyelid, long eyelashes and hypertrichosis, simian crease, distal axial triradius, cardiac anom¬ aly, renal anomaly, angulated penis, kypho¬ scoliosis, seizures, absence of corpus callo- sum. NATURAL HISTORY. Respiratory infections and feeding difficulties are frequent problems in infancy. The degree of mental deficiency is vari¬ able, the most usual intelligence quotient being in the 40 to 50 range. ETIOLOGY. Unknown. From 112 families there is one presumed recurrence, a crude recur¬ rence risk of about one per cent. REFERENCES 1. Rubinstein, J. H., and Taybi, H.: Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am. J. Dis. Child., 105: 588,1963. 2. Rubinstein, J. H.: The broad thumbs syndrome — Progress report 1968. Birth Defects, 5:25, 1969. 3. Simpson, N. E., and Brissenden, J. E.: The Rubin¬ stein-Taybi syndrome: Familial and dermato- glyphic data. Am. J. Hum. Genet., 25:225, 1973. 58