Large interstitial deletion of chromosome 13q and severe short stature: clinical report and review of the literature.

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：: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

authors： de Ravel TJ,Berkowitz DE,Wagner JM,Jenkins T

更新日期：1999-01-01 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

authors： Innes AM,Lowry RB

更新日期：2002-04-01 00:00:00

abstract：:Examination of an abortus from a 13 week miscarriage revealed a fetus of around 9 weeks developmental age with multiple abnormalities including microcephaly, iniencephaly and encephalocele continuous with cervical and thoracic spina bifida, whose karyotype was subsequently shown to be 47,XY, + 2. ...

journal_title：Clinical dysmorphology

authors： Seller MJ,Mazzaschi R,Ogilvie CM,Mohammed S

更新日期：2004-01-01 00:00:00

abstract：:We report three further patients with similar clinical signs to those described by Desbuquois et al. (Desbuquois G, Grenier B, Michel J, Rossignol C (1966): Arch Fr Pédiatr 23; 573-587) Two of the patients were born to consanguineous parents, confirming autosomal recessive inheritance of this condition. The patients p...

journal_title：Clinical dysmorphology

authors： Gillessen-Kaesbach G,Meinecke P,Ausems MG,Nöthen M,Albrecht B,Beemer FA,Zerres K

更新日期：1995-04-01 00:00:00

abstract：:We report two patients, one with sternal cleft, haemangiomas, supraumbilical midline raphe and the other with a sternal cleft, haemangiomas, coarctation of the aorta with a right aortic arch. ...

journal_title：Clinical dysmorphology

authors： Crisponi G,Marras AR,Corrias A,Memo L,Gorinati M,Flora PG

更新日期：2000-04-01 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

authors： Breslau-Siderius LJ,Beemer FA,Boom BW

更新日期：1996-07-01 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

authors： Guzoglu N,Gokmen T,Oguz SS,Fitoz S,Dilmen U

更新日期：2012-01-01 00:00:00

abstract：:Congenital deficiency of the fibula is sometimes accompanied by femoral hypoplasia, genu valgum, patellar a/hypoplasia or dislocation, tibial bowing, foot deformity, and toe deficiency in the affected limb. 'Iliac horns' are bony projections extending posterolaterally from the ilium and considered to be pathognomonic ...

journal_title：Clinical dysmorphology

authors： Haga N,Lee K,Nakamura K,Okazaki Y,Mamada K,Kurokawa T

更新日期：1997-04-01 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：: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

authors： Wartiovaara K,Paavola P,Suvanto P,Paulin L,Saarma M,Peltonen L,Sariola H

更新日期：1997-07-01 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

authors： Mariannejensen L,Kirchhoff M

更新日期：2005-10-01 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

authors： Honey EM,van Rensburg M,Knoll DP,Mienie LJ,van de Werke I,Beighton P

更新日期：2003-04-01 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

authors： Rabe H,Brune T,Rossi R,Steinhorst V,Jorch G,Horst J,Wittwer B

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

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

更新日期：2004-10-01 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：: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：:Supernumerary nostril is an extremely rare congenital anomaly. It can be unilateral or bilateral and it sometimes occurs in association with other congenital abnormalities. We describe a newborn infant with bilateral supernumerary nostrils together with oesophageal atresia and patent ductus arteriosus, an association ...

journal_title：Clinical dysmorphology

authors： Numanoglu V,Ermis B,Dursun A,Battal F,Ornek Z,Dogan SM,Ugur B

更新日期：2007-10-01 00:00:00

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

authors： Derbent M,Orün UA,Varan B,Mercan S,Yilmaz Z,Sahin FI,Tokel K

更新日期：2005-01-01 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：:We report on a 23-month-old boy with bilateral cleft lip and palate, marked hypertelorism, frontal bossing and severe bilateral, asymmetric hypoplasia of toes. The mother used bisoprolol, naproxen and sumatriptan for migraine until the fifth postmenstrual week of pregnancy. We suggest that this patient's features repr...

journal_title：Clinical dysmorphology

authors： Kajantie E,Somer M

更新日期：2004-07-01 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

authors： Schrander-Stumpel C,Havenith M,Linden EV,Maertzdorf W,Offermans J,van der Harten J

更新日期：1994-10-01 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：: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

authors： Guzzetta V,Lecora M,Rossi G,Berni Canani M,Andria G

更新日期：1996-04-01 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

authors： Phadke SR,Girisha KM,Dalal A

更新日期：2006-10-01 00:00:00

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. Bec...

journal_title：Clinical dysmorphology

authors： Temtamy SA,Meguid NA,Ismail SI,Ramzy MI

更新日期：1998-10-01 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

authors： Pandya NA,Jani BR

更新日期：2000-04-01 00:00:00

abstract：:We describe two unrelated female patients with congenital single focal skin defects, unilateral microphthalmia and limb anomalies. Growth and psychomotor development were normal and no brain malformation was detected. Although eye and limb anomalies are commonly associated, clinical anophthalmia and limb defects have ...

journal_title：Clinical dysmorphology

authors： Morava E,Jackson KE,Andersson HC

更新日期：2004-04-01 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

authors： ten Berg K,Lindhout D

更新日期：2002-07-01 00:00:00

abstract：:The objective of our study was to use an established cohort of boys to investigate common patterns of malformations in those with hypospadias. We performed a retrospective review of the phenotype of participants in the Deciphering Developmental Disorders Study with neurodevelopmental delay and an 'Abnormality of the g...

journal_title：Clinical dysmorphology

authors： Gazdagh GE,Wang C,McGowan R,Tobias ES,Ahmed SF,DDD Study.

更新日期：2019-07-01 00:00:00