Desbuquois syndrome: three further cases and review of the literature.

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

abstract：:A baby with 'apple peel' jejunal atresia and limb abnormalities is described. The literature on 'apple peel' atresia is reviewed and the possible aetiology is discussed. ...

journal_title：Clinical dysmorphology

authors： Cook JA,Bennett C

更新日期：1995-01-01 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

authors： Akita S,Kuratomi H,Abe K,Harada N,Mukae N,Niikawa N

更新日期：1993-01-01 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：: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：: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：: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：: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：: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：: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：: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

authors： Jardine PE,Burvill-Holmes LC,Schutt WH,Lunt PW

更新日期：1993-07-01 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 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：: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 history of the Robinow (fetal face) syndrome and the evolution of the phenotype are presented. Non-specific and syndrome-specific abnormalities are listed, discussed and illustrated. Existence of an autosomal dominant and an autosomal recessive type has been well documented. The two forms can be distinguished phen...

journal_title：Clinical dysmorphology

authors： Robinow M

更新日期：1993-07-01 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

abstract：:We present two patients with congenital anterolateral bowing of the tibia with polydactyly who had, in addition, cerebral malformations including agenesis of the corpus callosum and a large cerebral cyst. We discuss phenotypic overlap with the acrocallosal syndrome. ...

journal_title：Clinical dysmorphology

authors： Breckpot J,Thienpont B,Vanhole C,Van Rossem E,Van Schoubroeck D,Fryns JP,Lagae L,Buyse G,Devriendt K

更新日期：2009-10-01 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：:We report a fetus with an unbalanced translocation between chromosomes 2 and 11, the product of a paternal balanced reciprocal translocation, fetal karyotype 46, XX, -11, +der(11)t(2;11) (q35;q24.1)pat. The fetus had unusual facial features. The relevance of this case to mapping of the type I Waardenburg syndrome gene...

journal_title：Clinical dysmorphology

authors： Norman AM,Read AP,Clark A,Haslam J,Donnai D

更新日期：1992-01-01 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：: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：: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：:The clinical presentation of Occipital Horn syndrome, a rare X-linked recessive condition, in a 2-year-old boy is described. This is the youngest patient reported so far. The major clinical, pathophysiological and molecular aspects of this condition are summarized. ...

journal_title：Clinical dysmorphology

authors： De Paepe A,Loeys B,Devriendt K,Fryns JP

更新日期：1999-07-01 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：:The Richieri-Costa/Pereira form of acrofacial dysostosis is an autosomal-recessive condition characterized by short stature, Pierre-Robin sequence, preaxial and postaxial abnormalities in hands, congenital talipes, cleft mandible and malformations of the larynx. We report female infant presenting with severe micrognat...

journal_title：Clinical dysmorphology

authors： Golbert MB,Dewes LO,Philipsen VR,Wachholz RS,Deutschendorf C,Leite JC

更新日期：2007-04-01 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：:We report two cases with hemifacial microsomia with body asymmetry associated with mosaic trisomies. The child with mosaic trisomy 9 had skin pigmentary changes. In the boy with mosaic trisomy 22, the extra chromosome 22 originated from a maternal meiosis I error. ...

journal_title：Clinical dysmorphology

authors： de Ravel TJ,Legius E,Brems H,Van Hoestenberghe R,Gillis PH,Fryns JP

更新日期：2001-10-01 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：: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