Abstract:
:Prader-Willi syndrome is a complex multisystem disorder characterized by neonatal hypotonia, developmental delay, short stature, obesity, behaviour problems, hypothalamic hypogonadism and characteristic appearance. A number of sex chromosome abnormalities have been reported in children with Prader-Willi syndrome. We report on an infant with a 47, XXY karyotype and Prader-Willi syndrome diagnosed at 2 months of age. He is possibly the youngest to be reported with both Prader-Willi syndrome and Klinefelter syndrome. We have shown that the extra X chromosome causing Klinefelter syndrome is paternal in origin and Prader-Willi syndrome is due to maternal heterodisomy indicating that these two events occurred coincidentally.
journal_name
Clin Dysmorpholjournal_title
Clinical dysmorphologyauthors
Vasudevan PC,Quarrell OWdoi
10.1097/MCD.0b013e32801472cfsubject
Has Abstractpub_date
2007-04-01 00:00:00pages
127-9issue
2eissn
0962-8827issn
1473-5717pii
00019605-200704000-00014journal_volume
16pub_type
杂志文章abstract::We describe a patient whose features represent a new entity within the oculo-auriculo-vertebral spectrum. The boy had right microtia, atresia of the external auditory canal, growth retardation, a complex heart defect, and extra-lobar pulmonary sequestration. The cardiac anomalies were persistent left superior vena cav...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200501000-00006
更新日期:2005-01-01 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::Smith-Magenis syndrome is a microdeletion syndrome involving chromosome 17p11.2. The characteristic features include mental retardation, dysmorphic facial features, minor skeletal anomalies including brachydactyly and behavioural abnormalities, such as disturbed sleep pattern, restlessness and self-destructive behavio...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200510000-00004
更新日期:2005-10-01 00:00:00
abstract::Here we report on a Brazilian female patient with the clinical manifestations of the holoprosencephaly-like phenotype who also presented with a retroocular granuloma diagnosed as Langerhans cell histiocytosis in early infancy. Mutation analysis showed a missense mutation (G316D) in the exon 2 of SIX3 gene, which was p...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e32834116ae
更新日期:2011-07-01 00:00:00
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::Congenital swan neck deformity of the fingers is an uncommon congenital disorder. It is sporadic and not associated with other malformations. We report a case of congenital swan neck deformity of the fingers in a 16-year-old boy, with associated ulnar deviation of the fingers, bilateral simian creases and soft tissue ...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e3282f5280f
更新日期:2008-04-01 00:00:00
abstract::Several malformation syndromes which include polysyndactyly and craniofacial anomalies have been described. We report a case of an 11-month-old boy with a pattern of anomalies including polysyndactyly, trigonocephaly, partial agenesis of corpus callosum and dysmorphic facies. ...
journal_title:Clinical dysmorphology
pub_type: 信件
doi:10.1097/00019605-199604000-00012
更新日期:1996-04-01 00:00:00
abstract::A sibling pair with brachydactyly type B born to a normal non-consanguineous couple are described and the severity of their condition discussed. It is proposed that a subgroup of individuals with brachydactyly type B principally involving the nails and distal phalanges, and also having distinct facies, might be identi...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
更新日期:1999-01-01 00:00:00
abstract::Rhombencephalosynapsis is a rare cerebellar malformation that can be associated with anomalies of the cerebral hemispheres and variable degrees of neurodevelopmental delay. A syndromic association, comprising rhombencephalosynapsis, developmental delay, scalp alopecia and trigeminal anaesthesia (Gomez-López-Hernández ...
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::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
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
abstract::Acrocallosal syndrome (ACLS) is a rare genetic disorder typically characterized by craniofacial dysmorphism, agenesis, or hypoplasia of the corpus callosum, and duplication of the phalanges of halluces and/or the thumbs. ACLS is a recessive ciliopathy caused by mutations in KIF7. We identified a Turkish family who had...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0000000000000080
更新日期:2015-04-01 00:00:00
abstract::A male child is described with bilateral talipes equinovarus, absent fibulae with bowing and shortening of the tibiae and facial dysmorphic features. His mother was on a daily dose of 2000 mg sodium valproate for convulsions. This case raises the possibility that postaxial limb defects might be caused by intrauterine ...
journal_title:Clinical dysmorphology
pub_type: 信件
doi:10.1097/00019605-200009020-00015
更新日期:2000-04-01 00:00:00
abstract::We report on two brothers with short stature, severe developmental delay and unusual appearance. Several conditions including the Russell-Silver, Dubowitz, Floating-Harbour and Cockayne syndromes were considered in the differential diagnosis, but subsequently rejected. These two cases are likely to represent a new aut...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-200104000-00007
更新日期:2001-04-01 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
abstract::The main features of the Curry-Jones syndrome are syndactyly, pre-axial polydactyly, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple beni...
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::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
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::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 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
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
abstract::We report a fetus with atelencephaly, bilateral radial aplasia/hypoplasia, ventriculoseptal defect and megacolon, this combination of anomalies being consistent with the diagnosis of XK-aprosencephaly syndrome. The facial dysmorphology of this fetus differs from that previously reported and together with reports on ov...
journal_title:Clinical dysmorphology
pub_type: 信件
doi:10.1097/00019605-200210000-00015
更新日期:2002-10-01 00:00:00
abstract::Macrocephaly-cutis marmorata telangiectatica congenita was first identified as a distinct syndrome in 1997. Since then there have been more than 10 further reports of the condition, several also comprising reviews of the earlier literature. Virtually all reported patients, however, are young children, and there is ver...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e3283136948
更新日期:2008-10-01 00:00:00
abstract::We report a fetus with symmetrical terminal transverse limb deficiency. Two earlier reports described patients with similar defects. These patients resemble the animal models that result from the removal of apical ectodermal ridge. ...
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::Tibial hemimelia is a rare malformation that can be isolated or found with other skeletal abnormalities. We describe a fetus with unilateral tibial aplasia, ipsilateral pre-axial polysyndactyly and femoral hypoplasia, ventriculomegaly, anal atresia and rib and vertebral anomalies. We believe that this combination of m...
journal_title:Clinical dysmorphology
pub_type: 信件
doi:
更新日期:1999-07-01 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
abstract::Terminal deletions of chromosome 14q are very rarely reported. Schneider et al. (2008) reviewed about 20 cases of 14q32 region deletion in a previous article and only three of the cases involved autosomal translocations; however, no sex chromosome translocations were reported. Here we report the clinical findings of a...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e32834d6ba3
更新日期:2012-01-01 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
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
abstract::Parkes Weber syndrome is a disorder characterized by cutaneous blush, arteriovenous fistula, and overgrowth of the affected limb. It has been differentiated from Klippel-Trenaunay syndrome on the basis of the presence of arteriovenous fistula that are always absent in the latter. We report a case of Parkes Weber syndr...
journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e3280f6cff2
更新日期:2007-07-01 00:00:00