Abstract:
:We report on a child with a 'new' syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, talon cusps of upper central incisors, growth retardation, bilateral symmetrical digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism of digits I-III. Because he had a similarly affected brother and his parents were cousins we suggest autosomal recessive inheritance, X-linked recessive inheritance cannot be excluded. Differential diagnosis from other syndromes with preaxial brachydactyly and hyperphalangism is presented.
journal_name
Clin Dysmorpholjournal_title
Clinical dysmorphologyauthors
Temtamy SA,Meguid NA,Ismail SI,Ramzy MIdoi
10.1097/00019605-199810000-00003subject
Has Abstractpub_date
1998-10-01 00:00:00pages
249-55issue
4eissn
0962-8827issn
1473-5717journal_volume
7pub_type
杂志文章abstract::The trisomy 8 mosaic syndrome may present in many different ways. We present a rare hair anomaly in a patient with this syndrome. ...
journal_title:Clinical dysmorphology
pub_type: 信件
doi:
更新日期:1996-07-01 00:00:00
abstract::An unusual case of a female infant with Catel-Manzke syndrome is presented. Additional features not previously reported include three accessory ossicles at the bases or associated with the proximal phalanx of the index, middle, ring and little fingers bilaterally. There are also numerous bony abnormalities in both fee...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200410000-00007
更新日期:2004-10-01 00:00:00
abstract::We describe a brother and sister with Bohring-Opitz syndrome and suggest that autosomal recessive inheritance may occur in this condition. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200301000-00003
更新日期:2003-01-01 00:00:00
abstract::Glycogen storage disease IV (GSD IV), caused by a defect in GBE1, is a clinically heterogeneous disorder. A classical hepatic form and a neuromuscular form have been described. The severe neuromuscular form presents as a fetal akinesia deformation sequence or a congenital subtype. We ascertained three unrelated famili...
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
abstract::The purpose of this report is to describe a patient with a pattern of malformations very similar to those described by Antley and Bixler. They include craniosynostosis, midface hypoplasia with proptosis, ear anomalies, choanal stenosis, long tapered fingers with a bulbous tip, elbow joint contracture due to radio-ulna...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1997-01-01 00:00:00
abstract::This case report describes a child with the features of Kabuki syndrome, but with the additional feature of scalp cutis aplasia, which has not been previously described in this syndrome. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000204992.92484.5f
更新日期:2006-07-01 00:00:00
abstract::Dermatosparaxis (Ehlers-Danlos syndrome type VIIC) has only recently been identified in human subjects. Although well documented in animals, to date only three human cases have been recorded, all aged 2 years or under. We document a 15-year-old girl with this newly recognized condition to emphasize the remarkable simi...
journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
doi:
更新日期:1995-01-01 00:00:00
abstract::The possibility of gene-teratogen interaction is suggested in a family formerly reported by Gardner et al. [(2001) Clin Dysmorphol 10:203-208] in which both concordance and discordance exist for congenital malformations in equally valproate-exposed siblings. ...
journal_title:Clinical dysmorphology
pub_type: 评论,信件
doi:10.1097/00019605-200207000-00019
更新日期:2002-07-01 00:00:00
abstract::Macrodystrophia lipomatosa characterized by enlargement of one or more fingers or toes with predominantly fibroadipose tissue can be part of an overgrowth syndrome such as Proteus syndrome (Biesecker, 2006) or CLOVES syndrome (Sapp et al., 2007; Alomari, 2009) or found as an isolated abnormality in an otherwise normal...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e32834cef46
更新日期:2012-01-01 00:00:00
abstract::Kabuki make-up syndrome (KMS) is a mental retardation/congenital malformation syndrome of unknown aetiology. We report a child with the unbalanced karyotype 46,XY,-6,+der(6)t(6;12) (q25.3;q24.31)mat. who has several features of KMS and suggest a possible cause for this condition. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1993-07-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e328274244f
更新日期:2008-01-01 00:00:00
abstract::The authors' review their experience of Bowen-Conradi syndrome and the available literature. They point out that there have been three previously published reports of possible Bowen-Conradi syndrome in non Hutterite children. ...
journal_title:Clinical dysmorphology
pub_type: 评论,信件
doi:10.1097/00019605-200204000-00017
更新日期:2002-04-01 00:00:00
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::We report on a 15-year-old girl with severe pre- and post-natal growth retardation, poorly muscled build, micrognathia, ulnar ray oligodactyly, absent clavicles, abnormal scapulae, humeroradial fusion, hip dislocation, small iliac wings, slender tubular bones and normal intelligence. An extensive search has failed to ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200107000-00005
更新日期:2001-07-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1993-04-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000220612.63025.4b
更新日期:2006-10-01 00:00:00
abstract::In 1993, Nicolaides and Baraitser reported a new condition consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. We report here two unrelated patients with identical features, thus confirming the status of this rare disorder of unknown aetiology. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
doi:10.1097/00019605-200310000-00005
更新日期:2003-10-01 00:00:00
abstract::Diencephalic syndrome is a disorder characterized by severe emaciation during childhood. The rarity of the disorder coupled with nonspecific symptomology means that there is often a protracted diagnostic journey. Here, we report a child who was referred to a clinical genetics service for investigation of lipodystrophy...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0000000000000235
更新日期:2018-10-01 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
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
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abstract::A male infant is described with anterior segment dysgenesis and absent lens caused by amniotic bands. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200301000-00013
更新日期:2003-01-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000228426.97284.ff
更新日期:2007-01-01 00:00:00
abstract::The ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3; OMIM #604292), the Rapp-Hodgkin syndrome (RHS), and various other syndromes are caused by mutations in the TP63 gene, which encodes a p53-like transcription factor. Here, we report on a woman aged 37 years and her daughter aged 3 years with...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0000000000000117
更新日期:2016-04-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/01.mcd.0000194406.85052.de
更新日期:2006-04-01 00:00:00
abstract::18p deletion syndrome can be easily missed in a clinical setting as the facial features, though typical, can be overlooked and the other features including growth retardation and learning disability are nonspecific. We present a family in which the proband has 18p deletion syndrome. The proband performed better on ver...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e328343b9b9
更新日期:2011-07-01 00:00:00
abstract::A fetus was diagnosed on ultrasound scan as having sacral spina bifida and a ventricular septal defect in the heart. At postmortem examination the cardiac defect was found to be a conotruncal abnormality, and there was a cleft palate, some facial dysmorphism as well as the spina bifida. A diagnosis of Kousseff syndrom...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200204000-00007
更新日期:2002-04-01 00:00:00
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200009010-00012
更新日期:2000-01-01 00:00:00
abstract::We report a male infant with de la Chapelle dysplasia (atelosteogenesis type II), a skeletal dysplasia characterized by severe shortening of the long bones, deficient ossification of distinct parts of the skeleton, cleft palate and neonatal death from asphyxia. This is a rare condition with only 10 patients described ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章,评审
doi:
更新日期:1994-10-01 00:00:00
abstract::We report a female infant with 3-4 syndactyly of the fingers and postaxial polydactyly of all four limbs. She was large at birth and died at the age of 6 months. ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1996-10-01 00:00:00
abstract::Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome associated with a paracentric inversion of chromosome 7 in a 2-year-old Japanese girl is reported. She had sparse and light-brown hair, bilateral cleft lip and palate, fused lower incisors, a pigmented skin lesion at the neck, accessory nipples, limited extensi...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1993-01-01 00:00:00