A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes.

abstract：:Pubertal development was evaluated in nine males and 16 females with Williams syndrome (WS). Our results indicate that puberty in WS occurred earlier than in published population controls; specifically, 90% of menstruating females reached menarche and 83% of pubertal males showed Tanner III pubic hair development prio...

journal_title：Clinical dysmorphology

authors： Cherniske EM,Sadler LS,Schwartz D,Carpenter TO,Pober BR

更新日期：1999-04-01 00:00:00

abstract：:Barth syndrome is an X-linked recessive condition caused by defective remodelling of cardiolipins in mitochondrial membranes because of mutations in the tafazzin (TAZ1/G4.5) gene located at Xq28. The cardinal features of Barth syndrome are cardiac and skeletal myopathy and neutropaenia, reported in the initial descrip...

journal_title：Clinical dysmorphology

authors： Hastings R,Steward C,Tsai-Goodman B,Newbury-Ecob R

更新日期：2009-10-01 00:00:00

abstract：:Nicolaides-Baraitser syndrome is a rare clinical condition characterized by mental retardation with impairment of expressive language, short stature, microcephaly, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings. To date 24 cases have been reported, most of them being sporadic. The geneti...

journal_title：Clinical dysmorphology

authors： Gana S,Panizzon M,Fongaro D,Selicorni A,Memo L,Scandurra V,Vannucci C,Bigozzi M,Scordo MR

更新日期：2011-01-01 00:00:00

abstract：:We report a child with osteodysplastic primordial dwarfism type II. The literature is reviewed. ...

journal_title：Clinical dysmorphology

authors： al Gazali LI,Hamada M,Lytle W

更新日期：1995-07-01 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

authors： Karaer K,Yuksel Z,Ichkou A,Calisir C,Attié-Bitach T

更新日期：2015-04-01 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

authors： García-Cruz D,Mampel A,Echeverria MI,Vargas AL,Castañeda-Cisneros G,Davalos-Rodriguez N,Patiño-Garcia B,Garcia-Cruz MO,Castañeda V,Cardona EG,Marin-Solis B,Cantu JM,Nuñez-Reveles N,Moran-Moguel C,Thavanati PK,Ramirez-Garcia

更新日期：2011-01-01 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

authors： Donnai D,Tomlin PI,Winter RM

更新日期：2005-07-01 00:00:00

abstract：:A male infant is described with anterior segment dysgenesis and absent lens caused by amniotic bands. ...

journal_title：Clinical dysmorphology

authors： Datta H,Datta S

更新日期：2003-01-01 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

authors： Seller MJ,Mohammed S,Russell J,Ogilvie C

更新日期：2002-04-01 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

authors： Clarkson JH,Homfray T,Heron CW,Moss AL

更新日期：2004-10-01 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

authors： Canham NL,Holder SE

更新日期：2008-10-01 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

authors： Romeo MG,Nicoletti MC,Saporito A,Cilauro S,Romeo DM,Smilari P

更新日期：2000-10-01 00:00:00

abstract：:We report on three unrelated Brazilian patients with a holoprosencephaly phenotype, with variable central nervous system involvement, ano/microphthalmia, and first branchial arch anomalies. The features of these patients show a striking similarity to those of the patients reported by Guion-Almeida et al. (1999) and Ri...

journal_title：Clinical dysmorphology

authors： Guion-Almeida ML,Richieri-Costa A,Zechi-Ceide RM

更新日期：2008-01-01 00:00:00

abstract：:We present the case of a 3-year-old boy with post-natal growth failure, microcephaly, developmental delay, facial dysmorphism, an evolving pigmentary retinopathy, pituitary hypoplasia, micropenis, and growth hormone (GH) deficiency. He has a microcephalic osteodysplastic slender-bone disorder with disharmonic delayed ...

journal_title：Clinical dysmorphology

authors： Maclean K,Ambler G,Flaherty M,Kozlowski K,Adès LC

更新日期：2002-10-01 00:00:00

abstract：:Cerebro-oculo-nasal syndrome is a rare multiple congenital anomaly syndrome with structural anomalies of the central nervous system, anophthalmia, and abnormal nares. In this report two additional cases are presented, one of them without central nervous system and/or ocular anomalies. ...

journal_title：Clinical dysmorphology

authors： Guion-Almeida ML,Kokitsu-Nakata NM,Richieri-Costa A

更新日期：2000-10-01 00:00:00

abstract：:Two brothers with congenital microcephaly, growth and mental retardation, flexion contractures, dorsal edema of hands and feet, and ichthyotic skin changes are described. Mild manifestations of Neu-Laxova syndrome have to be considered but long survival and only mild intrauterine growth retardation not described in th...

journal_title：Clinical dysmorphology

authors： Horn D,Müller D,Thiele H,Kunze J

更新日期：1997-10-01 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

authors： Ribeiro LA,Bertolacini CD,Quiezi RG,Richieri-Costa A

更新日期：2011-07-01 00:00:00

abstract：:The megalencephaly capillary malformation syndrome (MCAP, OMIM 602501) is known to be associated with mosaic mutations in PIK3CA occurring during embryogenesis. Standard sequencing technologies are relatively poor at indentifying sequence changes that only affect a small percentage of cells, and the mutations are freq...

journal_title：Clinical dysmorphology

authors： McDermott JH,Byers H,Clayton-Smith J

更新日期：2016-01-01 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

authors： Worthington S,Turner A,Elber J,Andrews PI

更新日期：2000-07-01 00:00:00

abstract：:We report a female child born at 36 weeks of gestation with multiple abnormalities including dysmorphic and coarse facial features with features of mandibulofacial dysostosis that include bilateral microtia with the absence of external auditory meati and Mondini dysplasia as well as, duodenal atresia, intestinal malro...

journal_title：Clinical dysmorphology

authors： Maegawa GH,Chitayat D,Blaser S,Whyte H,Thomas M,Kim P,Kim J,Taylor G,McNamara PJ

更新日期：2006-10-01 00:00:00

abstract：:Two unrelated male patients are described with severe microcephaly, early-onset choreiform movements, cataracts, sensorineural deafness and profound developmental delay. Our patients have much in common with the three male siblings described by Tomiwa et al., who also had cataracts, deafness and developmental delay, b...

journal_title：Clinical dysmorphology

authors： Plomp AS,Baraitser M,Slaney SF,Winter RM

更新日期：2000-01-01 00:00:00

abstract：:We report a 6 month old boy with congenital hydronephrosis, cleft palate, severe hypotonia, congenital heart defect, developmental delay, and characteristic facial features with an open mouthed appearance and full lower lip, who we believe is the third reported case of Okamoto syndrome. Okamoto syndrome is a recently ...

journal_title：Clinical dysmorphology

authors： Wallerstein R,Shih LY,Fong MH,Zheng S,Poon E

更新日期：2005-04-01 00:00:00

abstract：:Chondrodysplasia punctata (CDP) is associated with a number of disorders, including inborn errors of metabolism, involving peroxisomal and cholesterol pathways, embryopathy and chromosomal abnormalities. Several classification systems of the different types of CDP have been suggested earlier. More recently, the bioche...

journal_title：Clinical dysmorphology

authors： Irving MD,Chitty LS,Mansour S,Hall CM

更新日期：2008-10-01 00:00:00

abstract：:We report a 6 year old girl with an isolated humoral immune deficiency and a unique combination of dysmorphic features. Physical findings include microcephaly, micrognathia, sickle shaped eyebrows, hypoplastic alae nasi, thenar hypoplasia, partial 4-5 syndactyly of toes, recessed great toes, anterior anus, and hypopla...

journal_title：Clinical dysmorphology

authors： Hoffman HM,Bastian JF,Bird LM

更新日期：2001-01-01 00:00:00

abstract：:We describe the prenatal diagnosis and post mortem findings, including fetal radiographs and bone histology, in a fetus with oto-palato-digital syndrome type II. The differential diagnosis and recurrence risks are discussed. ...

journal_title：Clinical dysmorphology

authors： Eccles DM,Moore IE,Cook S,Griffin DR,Chitty L,Hall CM,Temple IK

更新日期：1994-04-01 00:00:00

abstract：:GATA zinc finger domain-containing 2B (GATAD2B) encodes p66beta, a subunit of transcription repressor complex methyl-CpG-binding protein-1 histone deacetylase complex/nucleosome remodelling and deacetylase, and mediates gene silencing. Pathogenic variants in GATAD2B are known to cause mental retardation, autosomal dom...

journal_title：Clinical dysmorphology

authors： Kaur P,Mishra S,Rajesh SM,Girisha KM,Shukla A

更新日期：2019-10-01 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

authors： Tolmie JL,de Berker D,Dawber R,Galloway C,Gregory DW,Lehmann AR,McClure J,Pollitt RJ,Stephenson JB

更新日期：1994-01-01 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

authors： Crisponi G,Porcu C,Piu ME

更新日期：1997-01-01 00:00:00

abstract：:Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is a complex condition characterized by defects of aural, oral, mandibular and vertebral development. The aetiology of this condition is likely to be heterogeneous; most cases are sporadic, however, familial cases suggesting autosomal recessive and autosomal dominant...

journal_title：Clinical dysmorphology

authors： Vendramini-Pittoli S,Kokitsu-Nakata NM

更新日期：2009-04-01 00:00:00

abstract：:We report four children with unusual facial features including severe blepharophimosis, ptosis, and a distinctive nose with a broad flat tip and a depressed bridge. All four patients were markedly hypotonic and had severe feeding difficulties and developmental delay. Two had congenital heart defects and all three who ...

journal_title：Clinical dysmorphology

authors： Clayton-Smith J,Krajewska-Walasek M,Fryer A,Donnai D

更新日期：1994-04-01 00:00:00