Dysmorphology of Barth syndrome.

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：: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

authors： Greenhalgh KL,Newbury-Ecob RA,Lunt PW,Dolling CL,Hargreaves H,Smithson SF

更新日期：2003-01-01 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

authors： Reardon W,Winter RM,Smith LT,Lake BD,Rossiter M,Baraitser M

更新日期：1995-01-01 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：: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：: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 r...

journal_title：Clinical dysmorphology

authors： Vasudevan PC,Quarrell OW

更新日期：2007-04-01 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：: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

authors： Bowdin S,Phelan E,Watson R,McCreery KM,Reardon W

更新日期：2007-01-01 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：: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：: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：: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：: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：:In 1993, Suthers et al. reported on a child with an undiagnosed syndrome associating developmental delay, brachycephaly, deafness and cataracts. They discussed the possibility that this child had the same dysmorphic syndrome as the patient reported by Fine and Lubinsky in 1983. Twenty years ago, we examined a very sim...

journal_title：Clinical dysmorphology

authors： Aymé S,Philip N

更新日期：1996-01-01 00:00:00

abstract：:This case report describes an unusual combination of birth defects in a black South African child presenting with colon atresia, facial symmetry due to facial microsomia and brain abnormalities. The suspected aetiology is thought to be vascular disruption in the late embryonic period. ...

journal_title：Clinical dysmorphology

authors： Gregersen N

更新日期：2006-01-01 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：:Trigonocephaly and Wilson's disease (WD) are two different entities. The former is a type of craniosynostosis that occurs because of fusion of the metopic suture and the latter, also called hepatolenticular degeneration, is caused by an accumulation of copper in tissues all over the body because of failure of copper e...

journal_title：Clinical dysmorphology

authors： Cogulu O,Onay H,Ozgenc F,Karaca E,Gunduz C,Tzetis M,Cankaya T,Kanavakis E,Ozkinay F

更新日期：2005-07-01 00:00:00

abstract：:We report two sisters with growth failure, relative microcephaly, peculiar facies and apical dystrophy (brachydactyly type B). They had shortness and clinodactyly of the 5th fingers, aplasia or hypoplasia of the distal phalanges of 5th fingers, short medial phalanges of the 2nd and 5th fingers, hypoplasia or aplasia o...

journal_title：Clinical dysmorphology

authors： Ounap K,Justus I,Lipping-Sitska M

更新日期：1998-01-01 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：:A Japanese boy with a hearing deficit, cataracts, mental retardation, and brachycephaly without craniosynostosis is described. We believe that this patient represents a variant of the Fine-Lubinsky syndrome, and is the first report from a racial group other than Caucasian. ...

journal_title：Clinical dysmorphology

authors： Nakane T,Mizobe N,Hayashibe H,Nakazawa S

更新日期：2002-07-01 00:00:00

abstract：:We report a fetus noted on routine ultrasonography at 21 weeks gestation to have a skeletal dysplasia with reduced ossification of shortened long bones and normal sized ribs. The consanguineous parents elected to continue the pregnancy and spontaneous labour occurred at 33 weeks gestation. The child died in the neonat...

journal_title：Clinical dysmorphology

authors： Morton JE,Kilby MD,Rushton I

更新日期：1998-04-01 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：:The association between agnathia and holoprosencephaly is well documented (Pauli et al., 1981). Pauli et al. described two female sibs with agnathia and holoprosencephaly who were subsequently shown to carry an unbalanced 46,XX, der 18,t(6;18)(pter p24.1) karyotype (Pauli et al., 1983; Krassikoff and Sekhon, 1989). Al...

journal_title：Clinical dysmorphology

authors： Porteous ME,Wright C,Smith D,Burn J

更新日期：1993-04-01 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

authors： McDermott JH,Harris J,Fédée J,Skae M,Semple R,Douzgou S

更新日期：2018-10-01 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：: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 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：: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：: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 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