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Results for “Micrognathism”

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At least 199 records · Page 11Linked to original sources
PubMed1978

The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.

Data for 331 cri du chat cases, including 34 Danish probands, are reviewed. The incidence nad the prevalence among the mentally retarded population amounted to 1/45,000 and 1.5/1000, respectively. No striking association with prenatal events, parental ages, or birth order could be demonstrated. There was a significant excess of females. Parental translocations were present in slightly more than 10% of the families, while more rare cytogenetic aberrations (mosaicism, rings, and de novo translocations) accounted for less than 10% of all cases. The phenotypically relevant segment has been narrowed down to the midportion of the 5p15 band. Clinical, radiologic, and dermatoglyphic features are summarized and discussed, with special attention to the abnormal cry, which persists in many older probands, and to developmental abnormalities. No obvious correlation could be detected between clinical features and the localization of the deletion. No marker locus has yet been assigned to the short arm of chromosome 5. Treatment and prevention are briefly discussed.

Adolescent↗
PubMed1978

Involvement of the larynx in a congenital "myopathy", unilateral aplasia of the arytenoid, micrognathia, and malformation of the brain--a new syndrome?

Neuromyopathic changes were found in various limb muscles and in intrinsic laryngeal muscles of a two month old girl. She had been noted to have micrognathia, arthrogryposis and congenital stridor and died as a result of respiratory insufficiency and aspiration. Autopsy revealed an absent left arytenoid cartilage and severe histogenic abnormalities of the brain. Although the muscles involved showed a mainly myopathic pattern, marked signs of peripheral neurogenic involvement were present. These differed from motor neuron disease or aplasia of anterior horn cells. These findings cast a new light on the discussion of unclassified congenital myopathy resembling the picture of congenital muscular "dystrophy". This is the first case of congenital neuromyopathy in which involvement of intrinsic laryngeal muscles has been demonstrated morphologically.

Arthrogryposis↗
PubMed1976

Studies of malformation syndromes of man XXXXIA: anatomical studies in the Hanhart syndrome--a pathogenetic hypothesis.

Two infants with the Hanhart syndrome, i.e. micrognathia, microglossia, terminal deficiency of all limbs and imperforate anus in one, were dissected and studied in detail. The interrelationships of the muscular and skeletal defects suggested that they were the result of incomplete rather than abnormal morphogenesis. We speculate that the oral and limb abnormalities resulted from deficient mesodermal proliferation caused by disturbances in the ectodermal-mesodermal interactions beginning about the 4th week of development. The imperforate anus may also relate to the proposed defect.

Abnormalities, Multiple↗
PubMed1976

Studies of malformation syndromes of man XXIX: the Wiedemann-Beckwith syndrome. Clinical, genetic and pathogenetic studies of 12 cases.

This report describes 12 patients with the Wiedemann-Beckwith syndrome (WBS), including 6 familial cases from 2 families. The clinical manifestations do not allow for a differentiation between familial and sporadic cases. Consistent morphologic features include organomegaly, cytomegaly and nucleomegaly. The pathogenetic process may involve few or many organs and tissues and may represent a nuclear/mitotic dysfunction. Clinically, the manifestations are hyperplasia, hypoplasia, dysplasia, neoplasia and defects in differentiation. Secondary functional disturbances are at times prominent. The differential diagnosis of the WBS includes 1) the Wilm's tumor (WT)-aniridia syndrome: 2) the "tumor-hypertrophy syndrome" which includes WT, adenocortical tumors or hepatoblastoma; 3) the WT-pseudohermaphroditism syndrome; and 4) the "tumor-nevus syndrome" with or without malformations (particularly duplications) of the urinary tract. The latter two conditions are apparently not associated with hemihypertrophy. Familial occurrence suggests that some cases of the WBS may be due to delayed mutation. Carriers of the premutated allele appear to belong to two classes: those with a high risk of producing affected offspring and those who transmit the premutated allele but have no affected offspring.

Abnormalities, Multiple↗
PubMed1976

A severe infantile micromelic chondrodysplasia which resembles Kniest disease.

This paper describes 3 infants with a severe, generalized chondrodysplasia with short limbs, shortness of stature, relative micrognathia and neonatal respiratory distress in all cases, cleft palate in two and dislocation of lenses in one. They died at 7 and 10 weeks and at 17 months respectively. No autopsy was performed on any of the 3 patients. Roentgenological manifestations include short, broad tubular bones with metaphyseal widening, bowing of leg, thigh and forearm bones, neonatal accelerated carpal bone maturation, short, broad pelvis with wide, flared iliac wings, many gross vertebral abnormalities including most prominently coronal clefts of almost any vertebral body, and short ribs with flared anterior ends. Roentgenographically the condition has some similarities with Kniest disease, or more correctly, the Kniest chondrodysplasia. However, we think that the clinical and roentgenological manifestations are sufficiently unique to permit delineation of the condition of our 3 patients as a "new" entity different from the Kniest chondrodysplasia. Similar cases have been described by Rolland et al. from France and by Dinno et al. from the U.S.A. The later case and our 3 patients were sporadic cases, but the former had a probably affected sibling, suggesting that this disorder is an autosomal recessive trait.

Cleft Palate↗
PubMed1977

Pierre Robin syndrome with hyperphalangism-clinodactylysm of the index finger: a possible new palato-digital syndrome.

A nine day old boy who had the Pierre Robin syndrome also had an unusual associated hand malformation consisting of bilateral clinodactyly of the index finger. A supernumerary phalanx was inserted between the second metacarpal and the proximal phalanx of both index fingers with a radial deviation of the same phalanx. The same hand malformation has been previously described in three patients who had either the Pierre Robin syndrome or isolated cleft palate. On the basis of ours and the three previous cases, the existence of a new palato-digital syndrome is suggested.

Cleft Palate↗