摘要:

AbstractWe describe two sibs with prenatal‐onset growth deficiency, microcephaly, cataracts, mental retardation, enamel hypoplasia, immune deficiency, and generalized delay of ossification. The combination appears to constitute a previously undescribed autosomal recessive syndrom

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250102

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractCraniomandibular osteopathy is a disease of several breeds of dogs, principally West Highland White and Scottish terriers. It is characterized by a non‐neoplastic proliferation of bone on the ramus of the mandible and/or the tympanic bulla. The disease in various respects resembles Paget's disease and infantile cortical hyperrostosis of humans. A retrospective pedigree analysis of a kindred of West Highland White terriers was performed to determine if the trait was inherited and to determine mode of inheritance. This study indicated that in West Highland White terriers, the condition is an autosomal recessive trai

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250103

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractThe family on which this report is based is of interest because it contains individuals with 1) the branchio‐oto‐renal (BOR) syndrome who have renal hypoplasia or malformations of the kidney or collecting system including duplication; 2) only branchial and ear anomalies; and 3) apparent nonpenetrance of the syndrome.This report provides evidence to support the hypothesis that in some families variable expressivity includes duplication of the urinary collecting system in individuals with other manifestations of the BOR syndrome as well as individuals with branchial and ear anomalies who have apparently normal kidn

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250104

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractSince the description by de la Chapelle and colleagues of two sibs with a unique skeletal dysplasia, two additional cases have occurred, one in the original Finnish family and one sporadic patient born to unrelated parents of Belgian descent. The original Finnish family has later had a fourth child, a normal daughter who was found to be unaffected upon radiographic examination in the 19th week of gestation. These additional findings are compatible with recessive inheritance. Physical features common to these four patients include cleft palate, small thorax, moderately severe micromelia with small hands, and equinovarus deformity. In each case, the ulnae and fibulae were reduced to an almost triangular osseous remnant. Other long bones were short and bowed. Neonatal death occurred in all cases and may be attributed to a consistent triad of respiratory tract malformations: laryngeal stenosis, tracheobronchomalacia, and pulmonary hypoplasia. Clinical and radiographic features are sufficiently unique to distinguish de la Chapelle dysplasia from other disorders in the spectrum of neonatal lethal osteochondrodysplasias. Lacunar halos were identified as a distinctive histopathologic feature also observed in achondrogenesis but not in several other skeletal dysplasias.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250105

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractWe describe a first cousin marriage between Asians which resulted in 13 pregnancies; 4 of the offspring were normal, 5 were stillborn dwarves, 3 pregnancies resulted in miscarriage, and one was terminated for dwarfism detected prenatally. The radiology and histology are unique and the predigree suggests autosomal recessive inheritance.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250106

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractWe describe the clinical, radiographic, histopathologic, and ultrastructural features of a distinct neonatal lethal chondrodysplasia inherited as an autosomal recessive trait. The characteristic radiographic findings consist of flattened, hypoplastic vertebral bodies; short ribs; hypoplastic iliac bones with “a snail‐like” configuration; short, broad long‐bones with dumbbell‐like appearance; short and wide fibula; and precocious ossification of the tarsus. Chondro‐osseous histology is characteristic with hypervascularity, increased cellular density, and normal size chondrocytes with a centrally located round nucleus and absence of lacunar space. Because of the snail‐like radiographic appearance of the pelvis in this disorder, we propose the name “Schneckenbecken dysplasia” (ie, German

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250107

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractA non‐reciprocal translocation (5;15) and an isodicentric (15) resulting in trisomy 15pter→15ql?3 and monosomy 5qter [46,XY,−5,−15,+der(5)t(5;l5)(5pter→5q35::15q13→15qter),+idic(15)(pter→ql?3::ql?3→ pter)] was found in a 28‐year‐old profoundly retarded male resident of a state institution. Early developmental history and childhood and adult physical findings resembled those of Prader‐Willi syndrome (PWS) patients. The parents' unbanded chromosomes were normal. Blood groups of parents and propositus were uninformative with regard to identifying gene dele

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250108

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractDuring the past half century reproductive and prenatal technologies have become increasingly sophisticated and accessible to the public. As prospective parents have become more knowledgeable about the various reproductive options available, there has evolved a body of jurisprudence that has defined and defended the exclusive right of individuals to make their own decisions about conceiving and bearing children. This right is now protected under the constitutional umbrella of the right to privacy. If this right is violated through the negligence of one or more health care providers, the allegedly injured parents may sue for the wrongful birth of an unplanned or a defective child. Similarly, a defective child may sue for wrongful life. Both plaintiff parents and plaintiff child seek to recover monetary damages as compensation for their alleged injuries. In wrongful birth cases judicial opinions have moved from an earlier “blessings rationale” through a series of “benefits” cases toward more recent “burdens” decisions. In early suits for wrongful life the courts often held that the child had no valid cause of action and could therefore not be heard in court. More recently, however, some courts have recognized the validity of actions for wrongful life and have decided in favor of the defective children. The most recent judicial decisions suggest that courts may be following a trend to decide in favor of plaintiff parents and children at the expense of the defendant health car

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250109

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250110

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractThe association between cryptophthalmos and multiple congenital malformations has been well documented over the last century. Numerous authors have described case as the cryptophthalmos syndrome, but recently reports of cases without cryptophthalmos have led several authors to use the eponymic designation Fraser syndrome.We have seen seven cases of cryptophthalmos syndrome, including three sib pairs. All presented with cryptophthalmos and bilateral renal agenesis in addition to other characteristic associated malformations. A literature review showed 124 cases in which 27 demonstrated isolated cryptophthalmos, while 97 showed a pattern of multiple congenital malformations. We selected four major and eight minor criteria which enabled us to classify 86 of those cases as having cryptophthalmos syndrome with 11 remaining unclassified.Cryptophthalmos demonstrates equal sex distribution, occurrence in sibs, consanguinity in families with more than one affected child, and lack of vertical transmission—strongly suggesting autosomal recessive inheritance. Isolated cryptophthalmos or cryptophthalmos sequence was sporadic in 16 cases and familial in 11. The familial cases occurred in three families and demonstrated vertical transmission.The pathogenesis of this syndrome is unknown. There are similarities to animal models of maternal vitamin A deprivation and defects in programmed cell death. Cryptophthalmos syndrome should be considered in the differential diagnosis of cases with multiple congenital malformations, especially when they are associated with renal agenesis, even in the absence of cryptophthalmo

ISSN:0148-7299    

DOI:10.1002/ajmg.1320250111

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY