A novel heterozygous missense mutation G316D of SIX3 gene in a Brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis.

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

authors： Lemire EG,Stoeber GP,Anselmo M,Lowry RB

更新日期：2001-04-01 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

authors： Parentin F,Perissutti P

更新日期：2003-04-01 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：: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

authors： Canham NL

更新日期：2006-07-01 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 report two sibs of consanguineous parents with multiple congenital abnormalities which include prenatal and postnatal growth retardation, anterior segment defects of the eye, arachnodactyly with other skeletal abnormalities, congenital heart disease and early lethality. We think this constellation of anomalies may ...

journal_title：Clinical dysmorphology

authors： al Gazali LI,al Talabani J,Mosawi A,Lytle W

更新日期：1994-07-01 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：: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

authors： Radhakrishnan P,Moirangthem A,Nayak SS,Shukla A,Mathew M,Girisha KM

更新日期：2019-01-01 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：: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：:We report an inbred Omani family with four children in two sibships affected with a recessive type of multiple epiphyseal dysplasia, associated with macrocephaly frontal lobe atrophy on CT scan of the brain, lymphoedema and a distinctive facial appearance. We suggest that the constellation of abnormalities in these ch...

journal_title：Clinical dysmorphology

authors： al-Gazali LI,Bakalinova D

更新日期：1998-07-01 00:00:00

abstract：:In this report we describe a moderately mentally retarded female child with the association of Poland's anomaly and primary microcephaly with marked neuronal migration disturbances, cortical atrophy and white substance hypoplasia. This observation further supports the suggestion that the subclavian artery supply disru...

journal_title：Clinical dysmorphology

authors： Fryns JP,de Smet L

更新日期：1994-10-01 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：: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

authors： Rafati M,Seyyedaboutorabi E,Brujerdi R,Moossavi S,Ghaffari SR

更新日期：2012-07-01 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

authors： Slavotinek AM,Lacbawan F

更新日期：2003-07-01 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

authors： Vergara P,Digilio MC,De Zorzi A,Di Carlo D,Capolino R,Rimini A,Pelegrini M,Calabro R,Marino B

更新日期：2006-04-01 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：:Three patients are reported, including two dizygotic twins born to consanguineous parents, presenting with a disorder characterized by growth retardation, microcephaly, distinct facial features with hypotelorism, with or without epicanthic folds, prominent lips, low set ears, tetralogy of Fallot in two cases, short fi...

journal_title：Clinical dysmorphology

authors： Dallapiccola B,Digilio MC,Zatterale A,Galeone R,Capolino R,Mingarelli R

更新日期：2009-07-01 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

authors： Donnai D,Tomlin PI,Winter RM

更新日期：2005-07-01 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

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

更新日期：2000-07-01 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

authors： Thomas ER,Wakeling EL,Goodman FR,Dickinson JC,Hall CM,Brady AF

更新日期：2006-04-01 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：: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

authors： Koshy B,Mandal K,Srivastava VM,Loius PT,Danda S

更新日期：2011-07-01 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

authors： Barnicoat A,Salman M,Chitty L,Baraitser M

更新日期：1996-10-01 00:00:00

abstract：:We describe three siblings, one of whom has serpentine fibula syndrome (SFS) and has many facial and skeletal features in common with two deceased brothers, making it highly likely that they too had the condition. The karyotype of one of the deceased males was 47,XXY. These are the first affected sibs with SFS, and th...

journal_title：Clinical dysmorphology

authors： Rosser EM,Mann NP,Hall CM,Winter RM

更新日期：1996-04-01 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：: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

authors： Bağci G,Cetin GO,Semerci N,Toruner GA,Cinbiş M

更新日期：2012-01-01 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

authors： Mandal K,Phadke SR,Kalita J

更新日期：2008-04-01 00:00:00

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：: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