Familial syndrome of unusual triangular facies associated with cleft palate, malocclusion, midfacial hypoplasia and sensorineural hearing loss in two siblings. Is it a new autosomal recessive syndrome?

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 present the case of a 17-year-old boy with bilateral tibial hypoplasia and associated split hand and atrial septal defects. These have been reported previously to occur together by other investigators. There were no chromosomal abnormalities and the parents were non-consanguineous. ...

journal_title：Clinical dysmorphology

authors： Cerrahoğlu K,Izci Y,Apaydin O,Torun T

更新日期：2004-01-01 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：: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 on a 15-year-old girl with severe pre- and post-natal growth retardation, poorly muscled build, micrognathia, ulnar ray oligodactyly, absent clavicles, abnormal scapulae, humeroradial fusion, hip dislocation, small iliac wings, slender tubular bones and normal intelligence. An extensive search has failed to ...

journal_title：Clinical dysmorphology

authors： Faivre L,Cormier-Daire V,Geneviève D,Pinto G,Goulet O,Munnich A,Maroteaux P,Le Merrer M

更新日期：2001-07-01 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 present two siblings with oculoauriculovertebral spectrum phenotype (Goldenhar syndrome) and an unbalanced translocation t(5;8)(p15.31;p23.1) resulting in monosomy for the region 5p15.31 to 5pter and trisomy for 8p23.2 to 8pter region. The father was a carrier of the balanced rearrangement 46,XY,t(5;8)(p15.31;8p23....

journal_title：Clinical dysmorphology

authors： Josifova DJ,Patton MA,Marks K

更新日期：2004-07-01 00:00:00

abstract：:A case of Schinzel-Giedion syndrome, a rare malformation syndrome with a life expectancy of less than 2 years is described. Features present in this and previous cases are discussed. The association of agenesis of the corpus callosum with the Arnold-Chiari malformation found in this patient has not previously been des...

journal_title：Clinical dysmorphology

authors： Rittinger O,Weiss-Wichert P,Hasenöhrl G

更新日期：1999-10-01 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 on a 12-month-old boy with pre and post-natal growth retardation, triangular face and mild psychomotor retardation. Karyotyping revealed a supernumerary marker chromosome (SMC) in 36% of cells. Using fluorescence in situ hybridization and BAC clones, the supernumerary marker chromosome was found to be a high...

journal_title：Clinical dysmorphology

authors： Eggermann T,Krause-Plonka I,Wollmann HA,Zerres K,Dai G,Meyer E,Bartsch O

更新日期：2006-01-01 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：: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：:Among the findings associated with the human Retinoic Acid Embryopathy are hindbrain defects including the Arnold-Chiari malformation. The human Arnold-Chiari malformation (ACM) is a malformation complex where the cardinal feature is herniation of the caudal hindbrain into the vertebral column; it is frequently accomp...

journal_title：Clinical dysmorphology

authors： Alles AJ,Sulik KK

更新日期：1992-10-01 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：: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：:Three siblings are described with a distinct phenotype characterized by dysmorphic facial features, profound hypotonia, seizures and precocious puberty. No cause has been identified in spite of numerous investigations, including array-comparative genomic hybridization at a resolution of 1 Mb. Autosomal recessive inher...

journal_title：Clinical dysmorphology

authors： Smith A,Leask K,Tomlin P,Donnai D

更新日期：2008-07-01 00:00:00

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：: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：: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：:An 11-year-old boy is described who was born with a poorly developed right foot. At 16 weeks gestation his mother had had amniocentesis without direct ultrasound guidance. After the insertion of the amniocentesis needle, she felt strong abdominal resistance, which disappeared with slight withdrawal of the needle. Then...

journal_title：Clinical dysmorphology

authors： Holmes LB

更新日期：1997-07-01 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：: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 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：:We report two unrelated children with a new syndrome consisting of polydactyly and tibial aplasia in the lower limbs. severe brachyphalangy in the hands, malformed ears and a micropenis. ...

journal_title：Clinical dysmorphology

authors： Baraitser M,Stewart F,Winter RM,Hall CM,Herman S,Nevin NC

更新日期：1997-04-01 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：: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：: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：: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：:We present a 30 week old male fetus who had a very interesting malformation complex which can not be explained by teratogenic or hereditary diseases. The aim of this paper is to discuss this complicated entity and compare it with other reported cases. ...

journal_title：Clinical dysmorphology

authors： Semerci CN,Bebitoglu I,Kaçar A,Yurttagül S,Erçakmak S,Ertoy D,Ozaltin F,Balci S

更新日期：2001-01-01 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