Abstract:
:We report a fetus noted on routine ultrasonography at 21 weeks gestation to have a skeletal dysplasia with reduced ossification of shortened long bones and normal sized ribs. The consanguineous parents elected to continue the pregnancy and spontaneous labour occurred at 33 weeks gestation. The child died in the neonatal period. At necropsy, the main skeletal features were abnormal vertebrae with variation in shape and size, and ossification centres, short angulated long bones with distorted metaphyses and multiple abnormalities and fusions of the phalanges and metacarpals. In addition there was hydrops fetalis, a 'digit like' appendage overlying the left biceps muscle, a small chest with pulmonary hypoplasia and facial dysmorphism. In a subsequent pregnancy the fetus was noted at 13 weeks gestation to have nuchal translucency and bilaterally short femora. The fetus progressively developed hydrops fetalis and intrauterine death occurred at 22 weeks gestation. Post mortem examination revealed features very similar to the previous sibling. We suggest that this a new lethal osteochondrodysplasia syndrome. Recurrence in female siblings and parents who are double first cousins, strongly indicate autosomal recessive inheritance.
journal_name
Clin Dysmorpholjournal_title
Clinical dysmorphologyauthors
Morton JE,Kilby MD,Rushton Idoi
10.1097/00019605-199804000-00005subject
Has Abstractpub_date
1998-04-01 00:00:00pages
109-14issue
2eissn
0962-8827issn
1473-5717journal_volume
7pub_type
杂志文章abstract::We report a 16 year old African American female with an interstitial deletion of chromosome 13 comprising approximately 40% of the long arm of this chromosome [karyotype 46,XX, del(13)(q14.12q31.2)]. We believe that this case is interesting because of the large size of the chromosome deletion, the severe growth retard...
journal_title:Clinical dysmorphology
pub_type: 信件,评审
doi:10.1097/01.mcd.0000072160.33788.1f
更新日期:2003-07-01 00:00:00
abstract::The first case of Yunis-Varon-syndrome in a child of German origin is reported. The child died at the age of 3 months. The literature is reviewed. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1996-07-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0000000000000248
更新日期:2019-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e3280464ff6
更新日期:2007-04-01 00:00:00
abstract::Two unrelated children are described with megalocornea, mild-moderate developmental delay, mild joint laxity and a similar dysmorphic appearance, comprising a bossed forehead, hypertelorism, a saddle-shaped nose and a carp-shaped mouth with prominent lips. Similar abnormalities have been observed in previously reporte...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1994-04-01 00:00:00
abstract::We report on a female infant with postaxial polydactyly of the hands, preaxial polydactyly of the right foot, cleft palate, microglossia and tongue hamartomata consistent with an oral-facial-digital syndrome (OFDS). The patient also had optic nerve colobomata, a Dandy-Walker malformation, micrognathia and apneic spell...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200201000-00004
更新日期:2002-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000220605.94413.bb
更新日期:2006-07-01 00:00:00
abstract::We report a familial case of velocardiofacial syndrome (VCFS) with polymicrogyria to provide further support for the association of disorders of cortical development with del(22q11) syndromes. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200009030-00008
更新日期:2000-07-01 00:00:00
abstract::Kohlschutter syndrome is a rare neurodegenerative disorder presenting with intractable seizures, developmental regression and characteristic hypoplastic dental enamel indicative of amelogenesis imperfecta. We report a new family with two affected siblings. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200507000-00003
更新日期:2005-07-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1994-07-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000126138.37196.26
更新日期:2004-07-01 00:00:00
abstract::Spondyloenchondromatosis (SEM) is a rare skeletal dysplasia which presents with multiple enchondromata in the metaphyses of the long bones associated with dysplastic vertebral bodies. It is probably heterogeneous. We have investigated and documented a male infant in South Africa with spondyloenchondromatosis and persi...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200304000-00004
更新日期:2003-04-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1998-01-01 00:00:00
abstract::A 4-year-old Italian child with the association of a solitary median maxillary central incisor, growth hormone deficiency, Duane retraction syndrome and a duplicated thumb phalanx is described. ...
journal_title:Clinical dysmorphology
pub_type: 信件
doi:10.1097/00019605-200304000-00014
更新日期:2003-04-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200009020-00005
更新日期:2000-04-01 00:00:00
abstract::Sparse, brittle, sulphur-deficient hair is an excellent marker for several autosomal recessive neurocutaneous syndromes. The term 'trichothiodystrophy' is commonly used in publications on such syndromes and the best characterized trichothiodystrophy syndrome is associated with skin photosensitivity and intellectual im...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1994-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0000000000000344
更新日期:2020-12-07 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200310000-00015
更新日期:2003-10-01 00:00:00
abstract::Among the findings associated with the human Retinoic Acid Embryopathy are hindbrain defects including the Arnold-Chiari malformation. The human Arnold-Chiari malformation (ACM) is a malformation complex where the cardinal feature is herniation of the caudal hindbrain into the vertebral column; it is frequently accomp...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1992-10-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 信件
doi:10.1097/00019605-200404000-00013
更新日期:2004-04-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
doi:10.1097/01.mcd.0000228423.04908.0c
更新日期:2007-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000175604.03221.ad
更新日期:2006-01-01 00:00:00
abstract::Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema, as described earlier in a male patient with this syndrome. The aim of this study is to report the clinical characteristics of these three new cases and to emphasize that lymphoedema, as obse...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e32833d015c
更新日期:2011-01-01 00:00:00
abstract::A female infant with caudal regression syndrome and annular pancreas is described. This is the first time this association appears to have been described. ...
journal_title:Clinical dysmorphology
pub_type: 信件
doi:10.1097/00019605-200009040-00014
更新日期:2000-10-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 信件
doi:10.1097/00019605-200401000-00016
更新日期:2004-01-01 00:00:00
abstract::An 11-year-old boy is described who was born with a poorly developed right foot. At 16 weeks gestation his mother had had amniocentesis without direct ultrasound guidance. After the insertion of the amniocentesis needle, she felt strong abdominal resistance, which disappeared with slight withdrawal of the needle. Then...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-199707000-00013
更新日期:1997-07-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1994-04-01 00:00:00
abstract::Williams-Beuren syndrome (WBS), a contiguous gene deletion syndrome, mostly occurs sporadically. Although a few cases of familial WBS have been reported in the literature, molecular confirmation of the deletion has not been carried out in all of them. Here, we report on the eighth clinically and molecularly confirmed ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e3283520539
更新日期:2012-07-01 00:00:00
abstract::Nerve growth factor receptor p75 (NGFR) gene was investigated as a potential candidate gene in Meckel syndrome (MKS) because of its important role in embryonic development, chromosomal localization adjacent to the MKS locus and Meckel syndrome-resembling findings in knock-out mice phenotype. The sequence analysis of t...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-199707000-00003
更新日期:1997-07-01 00:00:00
abstract::Tetralogy of Fallot associated with the atrioventricular canal defect has been usually reported in association with Down syndrome. The aim of the present study was to describe the cardiac aspects and the genetic anomalies in children with this association of heart defects. We identified 64 patients with atrioventricul...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000198925.94082.ea
更新日期:2006-04-01 00:00:00