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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    A. Chromosomal Abnormality Syndromes XXXXY SYNDROME Hypogenitalism, Limited Elbow Pronation, Low Dermal Ridge Count on Fingertips Since the initial report of Fraccaro, et al.^ in 1960, at least 40 cases of the XXXXY aneu- ploidy syndrome have been reported. ABNORMALITIES. Frequencies based on from 17 to 32 cases for each anomaly:^ Performance. Mental deficiency, intelligence quotient of 19 to 57, mean I.Q. of 34. Hypotonia, joint laxity, or both, in about one third. Growth. Tendency to low birth weight, shortness of stature, retarded osseous maturation 53% Craniofacial. Sclerotic cranial sutures 57% Wide-set eyes 80% Upward slant, palpebral fissures 79% Inner epicanthic folds 82% Strabismus 59% Low nasal bridge; wide or upturned nasal tip 95% Mandibular prognathism 50% Auricular anomaly (large, low-set, malformed) 70% Neck. Short neck 72% Thorax. Thick sternum 75% Limbs. Limited pronation at elbow 95% Radioulnar synostosis 42% Clinodactyly of fifth finger 90% Coxa valga 25% Genu valga 50% Pes planus 73% Dermal ridge patterns.^ High frequency of low arch pattern on fingertips, with mean total ridge count of only 50, versus the average male total ridge count of 144. Genitalia. Small penis 80% Small testes, hypoplastic tubules, diminished Leydig cells 94% Cryptorchidism 28% Hypoplastic scrotum 80% OCCASIONAL ABNORMALITIES. Obesity, flat occiput, microcephaly, antimongoloid slant to palpebral fissures, Brushfield speckled iris, myopia, cleft palate, small peg-shaped teeth, web neck (12 per cent), pectus excavatum, con¬ genital heart defect (especially patent ductus ar¬ teriosus), umbilical hernia, scoliosis, simian creases, club foot, abnormal toes, wide gap be¬ tween first and second toes, hypospadias, bifid scrotum. NATURAL HISTORY. Perinatal problems in adaptation have been frequent; linear growth is generally slow with moderately short final height attainment. Infertility and inadequate virilization may be anticipated. Depending on the overall life situation, testosterone replace¬ ment therapy should be considered at 11 to 12 years of age. ETIOLOGY. The XXXXY diagnosis may be confirmed by the finding of as many as three X- chromatin masses in interphase nuclei (buccal smear) in a male who is found to have 49 chro¬ mosomes with three extra X group chromo¬ somes. COMMENT. Although some of the features may initially suggest Down syndrome, the total pattern of anomalies is usually at variance with this diagnosis. REFERENCES 1. Fraccaro, M., Kaijser, K., and Lindsten, J.: A child with 49 chromosomes. Lancet, 2:899, 1960. 2. Zaieski, W. A., Houston, C. S., Pozsonyi, J., and Ying, K. L.: The XXXXY chromosome anomaly: report of three new cases and review of 30 cases from the literature. Can. Med. Ass. J., 94:1143, 1966. 3. Penrose, L. S.: Finger-print pattern and the sex chromosomes. Lancet, i:298, 1967. 40