Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder.

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：: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：: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 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 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：: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：: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：:Our study aims to delineate the syndromology of Hunter syndrome (MPSII), by presenting three patients with different clinical courses, caused by different genetic mechanisms. Single-nucleotide variants (SNV) or small deletions encompassing the iduronate-2-sulfatase (IDS) gene are identified in the majority of affected...

journal_title：Clinical dysmorphology

authors： Jezela-Stanek A,Pokora P,Młynek M,Smyk M,Ziemkiewicz K,Różdżyńska-Świątkowska A,Tylki-Szymańska A

更新日期：2020-12-07 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：: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：:We report on a female patient with severe mental retardation, dysmorphic features, deafness, spasticity, and behavioural problems in whom a 2.3 Mb duplication of 12q24.21q24.23 was detected by genome-wide tiling-path resolution array-based comparative genomic hybridization. Mental retardation, microcephaly, short stat...

journal_title：Clinical dysmorphology

authors： Ruiter M,Koolen DA,Pfundt R,de Leeuw N,Klinkers HM,Sistermans EA,Veltman JA,de Vries BB

更新日期：2006-07-01 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：: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 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：: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：: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：: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：: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：: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：:Two unrelated children are described with megalocornea, mild-moderate developmental delay, mild joint laxity and a similar dysmorphic appearance, comprising a bossed forehead, hypertelorism, a saddle-shaped nose and a carp-shaped mouth with prominent lips. Similar abnormalities have been observed in previously reporte...

journal_title：Clinical dysmorphology

authors： Gibbs ML,Wilkie AO,Winter RM,Taylor D,Baraitser M

更新日期：1994-04-01 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：: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：: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：:We describe the prenatal diagnosis and post mortem findings, including fetal radiographs and bone histology, in a fetus with oto-palato-digital syndrome type II. The differential diagnosis and recurrence risks are discussed. ...

journal_title：Clinical dysmorphology

authors： Eccles DM,Moore IE,Cook S,Griffin DR,Chitty L,Hall CM,Temple IK

更新日期：1994-04-01 00:00:00

abstract：:Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is a complex condition characterized by defects of aural, oral, mandibular and vertebral development. The aetiology of this condition is likely to be heterogeneous; most cases are sporadic, however, familial cases suggesting autosomal recessive and autosomal dominant...

journal_title：Clinical dysmorphology

authors： Vendramini-Pittoli S,Kokitsu-Nakata NM

更新日期：2009-04-01 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：: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：: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 fetus with atelencephaly, bilateral radial aplasia/hypoplasia, ventriculoseptal defect and megacolon, this combination of anomalies being consistent with the diagnosis of XK-aprosencephaly syndrome. The facial dysmorphology of this fetus differs from that previously reported and together with reports on ov...

journal_title：Clinical dysmorphology

authors： Kajantie E,Ammälä P,Salonen R

更新日期：2002-10-01 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