共查询到20条相似文献,搜索用时 15 毫秒
1.
Nicholas R. Dennis Joanne Fairhurst Isabella E. Moore 《American journal of medical genetics. Part A》1995,59(4):517-520
We report on a family in which 1 male infant who died neonatally and 1 female fetus at 29 weeks of gestation had an identical condition resembling Hallermann-Streiff syndrome. The long bones were slender with a few fractures, the skull was underossified, and the face was characteristic of Hallermann-Streiff syndrome. Bilateral cataracts were identified in the male. We regard the condition in this family as a severe form of Hallermann-Streiff syndrome, which appears to have been lethal, at least in the liveborn male. This syndrome is usually sporadic. Recurrence in sibs suggests the possibility of autosomal-recessive inheritance, or of a dominant mutation with parental mosaicism. © 1995 Wiley-Liss, Inc. 相似文献
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Vazken M. Der Kaloustian Nathalie McIntosh Kenneth Silver Shirley Blaichman Fahed Halal 《American journal of medical genetics. Part A》1992,43(6):942-945
We report on 2 sibs with generalized hypotonia, developmental retardation, unilateral radio-ulnar synostosis, and a characteristic facial appearance. We propose that they have a new autosomal recessive syndrome. © 1992 Wiley-Liss, Inc. 相似文献
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V M Der Kaloustian N McIntosh K Silver S Blaichman F Halal 《American journal of medical genetics》1992,43(6):942-945
We report on 2 sibs with generalized hypotonia, developmental retardation, unilateral radio-ulnar synostosis, and a characteristic facial appearance. We propose that they have a new autosomal recessive syndrome. 相似文献
4.
Aldo Giannotti Maria Cristina Digilio Rita Mingarelli Bruno Marino Bruno Dallapiccola 《American journal of medical genetics. Part A》1997,73(2):227-229
We report on the father-to-son transmission of a progeroid syndrome characterized by facial anomalies, sparse subcutaneous fat, and hand anomalies including syndactyly, camptodactyly, and finger deviation. Mild mental retardation, microcephaly, and congenital heart defect were found only in the son. To our knowledge, this syndrome has not been described previously. Am. J. Med. Genet. 73:227–229, 1997. © 1997 Wiley-Liss, Inc. 相似文献
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G Wolff E Zimmermann B Zimmerhackl C Harnasch C Jung E Back 《Journal of medical genetics》1994,31(1):65-67
We report on two severely mentally retarded male children of consanguineous parents who seem to be affected by an identical syndrome. The main physical anomalies are typical facial stigmata with a broad nasal bridge, a bulbous nose, upward slanting palpebral fissures, microretrognathia, low hair line, and large ears with an incompletely developed upper helix. In addition, both brothers had hypospadias type II, limb contractures, and delayed bone age. One child had a bilateral cleft lip with cleft palate and cryptorchidism, and developed scoliosis during adolescence. The other had bilateral inguinal hernias and strabismus. Chromosome analysis showed a normal karyotype in both. The striking similarity between the brothers, the dissimilarity to other known syndromes, and the parental consanguinity argue in favour of a new, hitherto undescribed, possibly autosomal recessive syndrome. 相似文献
7.
Michael Lison Benjamin Kornbrut Avraham Feinstein Yehuda Hiss Haim Boichis Richard M. Goodman John M. Opitz 《American journal of medical genetics. Part A》1981,9(4):351-357
We describe progressive spastic paraparesis of the lower limbs in the presence of generalized vitiligo, premature graying of body hair, and distinct facial appearance in 3 sibs whose parents are first cousins. The condition is considered an autosomal recessive trait. The pathogenesis of this neurocutaneous disorder is unknown. 相似文献
8.
Brenda Finucane Michael B. Kurtz Charles I. Scott 《American journal of medical genetics. Part A》1992,43(5):844-847
We present 2 unrelated children with a distinct pattern of anomalies, including mental retardation, hearing impairment, unusual facial appearance, and skeletal defects. Both children have severe behavior disturbance and hyperactivity. The characteristic facial findings include a broad mouth, broad nasal bridge, mildly anteverted nares with a fleshy nasal tip, and deep nasolabial folds. Skeletal findings include mild to moderate short stature, dysharmonic maturation of epiphyseal ossification centers in the hands, and mild scoliosis. © 1992 Wiley-Liss, Inc. 相似文献
9.
Pena and Shokeir [J Pediatr 85:373-375. 1974] first described a syndrome characterized by multiple ankyloses, camptodactyly, facial anomalies, and pulmonary hypoplasia, which was later termed Pena-Shokeir I syndrome. Recent evidence suggests that a more accurate designation for this condition is the fetal akinesia sequence, which is almost certainly a heterogeneous entity. We describe sibs who were diagnosed as having Pena-Shokeir I syndrome but who did not have the muscular or anterior horn cell changes characteristic of other infants with the fetal akinesia sequence. In addition, both sibs had fetal edema, the first sib had coarctation of the aorta, and the second had polydactyly and thyroid hypoplasia. We suggest that this case provides further evidence for heterogeneity in the fetal akinesia sequence and may represent a provisionally unique syndrome. 相似文献
10.
Magorzata J.M. Nowaczyk Trenna L. Sutcliffe 《American journal of medical genetics. Part A》1999,87(1):78-81
We report on two sibs, a 2.5-year-old girl and a 10-month-old boy, with a hitherto unreported combination of congenital anomalies: blepharophimosis, ptosis, midface hypoplasia, abnormal palate, low anterior and posterior hairlines, displaced hair whorl, apparently low-set and abnormally shaped ears, trigonocephaly, dental anomalies, laryngomalacia, sensorineural hearing loss, genital anomalies, hypotonia, and mental retardation. The occurrence of a similar pattern of anomalies in two sibs of opposite sex suggests autosomal recessive inheritance. To our knowledge, this combination of anomalies has not been reported previously, and thus we propose it to be a formal genesis syndrome. Am. J. Med. Genet. 87:78–81, 1999. © 1999 Wiley-Liss, Inc. 相似文献
11.
Jean-Pierre Fryns Chantal De Troch Christine Van Mol Luc Vandenbossche 《Clinical genetics》1996,50(4):212-216
In this report we describe two unrelated young males with severe mental retardation, persisting hypotonia, and constipation. A maternal uncle of one of these two boys died at the age of 18 months and presented the same clinical symptoms. The triad mental retardation, hypotonia, constipation is a characteristic finding in the FG syndrome, an X-linked mental retardation syndrome. At the present time, there is increasing evidence that the FG syndrome-phenotype may be present in different XLMR conditions, e.g. the fragile X syndrome. In addition to the triad severe mental retardation, hypotonia, constipation, the present two male index patients had a characteristic facial appearance with nasal hypoplasia, relative microcephaly and pre-and postnatal overgrowth. The question is raised whether the present two males are examples of a specific entity within the FG-syndrome-like phenotype. 相似文献
12.
We present 2 unrelated children with a distinct pattern of anomalies, including mental retardation, hearing impairment, unusual facial appearance, and skeletal defects. Both children have severe behavior disturbance and hyperactivity. The characteristic facial findings include a broad mouth, broad nasal bridge, mildly anteverted nares with a fleshy nasal tip, and deep nasolabial folds. Skeletal findings include mild to moderate short stature, dysharmonic maturation of epiphyseal ossification centers in the hands, and mild scoliosis. 相似文献
13.
We report on two sibs, a 2.5-year-old girl and a 10-month-old boy, with a hitherto unreported combination of congenital anomalies: blepharophimosis, ptosis, midface hypoplasia, abnormal palate, low anterior and posterior hairlines, displaced hair whorl, apparently low-set and abnormally shaped ears, trigonocephaly, dental anomalies, laryngomalacia, sensorineural hearing loss, genital anomalies, hypotonia, and mental retardation. The occurrence of a similar pattern of anomalies in two sibs of opposite sex suggests autosomal recessive inheritance. To our knowledge, this combination of anomalies has not been reported previously, and thus we propose it to be a formal genesis syndrome. 相似文献
14.
Pulmonary atresia comprises only 1% of all congenital heart defects. Counseling the parents on recurrence risks is difficult. We present a rare case of pulmonary atresia in two sibs, along with a review of the literature. 相似文献
15.
R A Pfeiffer H St?ss H J Voight G F Wündisch 《American journal of medical genetics》1988,29(4):901-908
Absence of fibulae, and unilateral absence of ulna, associated with lateral oligodactyly, and rectangular bowing of the femora are the prominent features of a lethal syndrome studied in two children of related parents. Other malformations are cleft lip and palate and posterior midline abnormalities of the brain. One similar though not identical MCA-syndrome was reported. The literature is reviewed with respect to ulno-fibular malformations. 相似文献
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R. A. Pfeiffer H. Stss H. J. Voight G. F. Wündisch John M. Optiz James F. Reynolds 《American journal of medical genetics. Part A》1988,29(4):901-908
Absence of fibulae, and unilateral absence of ulna, associated with lateral oligodactyly, and rectangular bowing of the femora are the prominent features of a lethal syndrome studied in two children of related parents. Other malformations are cleft lip and palate and posterior midline abnormalities of the brain. One similar though not identical MCA-syndrome was reported. The literature is reviewed with respect to ulno-fibular malformations. 相似文献
18.
Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome
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S Manouvrier-Hanu J Amiel S Jacquot K Merienne A Moerman A Coeslier F Labarriere L Vallee M Croquette A Hanauer 《Journal of medical genetics》1999,36(10):775-778
An unreported missense mutation of the ribosomal S6 kinase 2 (RSK2) gene has been identified in two male sibs with a mild form of Coffin-Lowry syndrome (CLS) inherited from their healthy mother. They exhibit transient severe hypotonia, macrocephaly, delay in closure of the fontanelles, normal gait, and mild mental retardation, associated in the first sib with transient autistic behaviour. Some dysmorphic features of CLS (in particular forearm fullness and tapering fingers) and many atypical findings (some of which were reminiscent of FG syndrome) were observed as well. The moderate phenotypic expression of this mutation extends the CLS phenotype to include less severe mental retardation and minor, hitherto unreported signs. The missense mutation identified may be less deleterious than those previously described. As this mutation occurs in a protein domain with no predicted function, it could be responsible for a conformational change affecting the protein catalytic function, since a non-polar amino acid is replaced by a charged residue. 相似文献
19.
Mégarbané A 《American journal of medical genetics. Part A》2003,(4):381-384
We report two male cousins with short stature, microcephaly, hypertelorism, optic atrophy, ptosis, absent ear lobes, high-arched palates, abnormal EEG, and severe mental retardation. Both cousins have consanguineous parents. Differential diagnoses are discussed and the possibility that we might be reporting on a new syndrome is raised. 相似文献
20.
This report describes six relatives with a syndrome of mild prenatal-onset growth deficiency, an altered craniofacial appearance, preauricular pits, and clinodactyly of the fifth finger; three had tetralogy of Fallot. The clinical impact of this condition appears to be related to the severity of the cardiac defect. Autosomal dominant inheritance is implied by the occurrence of the disorder in three successive generations with documented male-to-male transmission. Recognition of this syndrome is important in counseling families regarding recurrence risk for tetralogy of Fallot. 相似文献