Cutis aplasia as a feature of Kabuki syndrome.


: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.


Clin Dysmorphol


Clinical dysmorphology


Canham NL




Has Abstract


2006-07-01 00:00:00














  • The Robinow (fetal face) syndrome: a continuing puzzle.

    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

    pub_type: 杂志文章,评审


    authors: Robinow M

    更新日期:1993-07-01 00:00:00

  • 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::We present a previously undescribed syndrome characterized by triangular facial appearance, mid-facial hypoplasia, cleft palate and mild sensorineural hearing loss in two siblings. The parents were unrelated. The patients' stature and intelligence were normal. We suggest that the inheritance is autosomal recessive. ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Balci S,Akcan B,Vargel I,Tümer C,Enacar A

    更新日期:2004-04-01 00:00:00

  • Trigonocephaly and Wilson's disease in two siblings.

    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

    pub_type: 杂志文章


    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

  • 22q11 deletion and polymicrogyria--cause or coincidence?

    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

    pub_type: 杂志文章


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

    更新日期:2000-07-01 00:00:00

  • A variant microcephalic osteodysplastic slender-bone disorder with growth hormone deficiency and a pigmentary retinopathy.

    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

    pub_type: 杂志文章


    authors: Maclean K,Ambler G,Flaherty M,Kozlowski K,Adès LC

    更新日期:2002-10-01 00:00:00

  • Congenital swan neck deformity of fingers with syndactyly.

    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

    pub_type: 杂志文章


    authors: Mandal K,Phadke SR,Kalita J

    更新日期:2008-04-01 00:00:00

  • Severe malformation of one foot from amniocentesis needle injury.

    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

    pub_type: 杂志文章


    authors: Holmes LB

    更新日期:1997-07-01 00:00:00

  • Large interstitial deletion of chromosome 13q and severe short stature: clinical report and review of the literature.

    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

    pub_type: 信件,评审


    authors: Slavotinek AM,Lacbawan F

    更新日期:2003-07-01 00:00:00

  • Bowen-Conradi syndrome in non Hutterite infant.

    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

    pub_type: 评论,信件


    authors: Innes AM,Lowry RB

    更新日期:2002-04-01 00:00:00

  • Anterior segment dysgenesis and absent lens caused by amniotic bands.

    abstract::A male infant is described with anterior segment dysgenesis and absent lens caused by amniotic bands. ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Datta H,Datta S

    更新日期:2003-01-01 00:00:00

  • Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum.

    abstract::Several malformation syndromes which include polysyndactyly and craniofacial anomalies have been described. We report a case of an 11-month-old boy with a pattern of anomalies including polysyndactyly, trigonocephaly, partial agenesis of corpus callosum and dysmorphic facies. ...

    journal_title:Clinical dysmorphology

    pub_type: 信件


    authors: Guzzetta V,Lecora M,Rossi G,Berni Canani M,Andria G

    更新日期:1996-04-01 00:00:00

  • EC syndrome in a girl with paracentric inversion (7)(q22.1;q36.3).

    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

    pub_type: 杂志文章


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

    更新日期:1993-01-01 00:00:00

  • A new lethal autosomal recessive skeletal dysplasia with associated dysmorphic features.

    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

    pub_type: 杂志文章


    authors: Morton JE,Kilby MD,Rushton I

    更新日期:1998-04-01 00:00:00

  • Expanding the phenotype of Filippi syndrome: a report of three cases.

    abstract::This report is of two brothers and a male singleton with clinical characteristics of Filippi syndrome, born to young, healthy, non-consanguineous parents. Their features, which include borderline to milder developmental delay, particularly of speech and language, primary microdontia and previously unreported radiologi...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Walpole IR,Parry T,Goldblatt J

    更新日期:1999-10-01 00:00:00

  • The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC).

    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

    pub_type: 杂志文章,评审


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

    更新日期:1995-01-01 00:00:00

  • Parkes Weber syndrome occurring in a family with capillary malformations.

    abstract::Parkes Weber syndrome is a disorder characterized by cutaneous blush, arteriovenous fistula, and overgrowth of the affected limb. It has been differentiated from Klippel-Trenaunay syndrome on the basis of the presence of arteriovenous fistula that are always absent in the latter. We report a case of Parkes Weber syndr...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Brunetti-Pierri N,Seidel GF,Levy ML,Reid Sutton V

    更新日期:2007-07-01 00:00:00

  • Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity.

    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

    pub_type: 杂志文章


    authors: de Ravel TJ,Berkowitz DE,Wagner JM,Jenkins T

    更新日期:1999-01-01 00:00:00

  • Two patients with varying combinations of sternal cleft, haemangiomas, midline abdominal raphe, coarctation of the aorta with a right aortic arch.

    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

    pub_type: 杂志文章


    authors: Crisponi G,Marras AR,Corrias A,Memo L,Gorinati M,Flora PG

    更新日期:2000-04-01 00:00:00

  • Agnathia-holoprosencephaly: a new recessive syndrome?

    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

    pub_type: 杂志文章


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

    更新日期:1993-04-01 00:00:00

  • Isolated macrodystrophia lipomatosa of the foot in a neonate: a case report.

    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

    pub_type: 杂志文章


    authors: Guzoglu N,Gokmen T,Oguz SS,Fitoz S,Dilmen U

    更新日期:2012-01-01 00:00:00

  • Familial Williams-Beuren syndrome ascertained by screening rather than targeted diagnosis.

    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

    pub_type: 杂志文章


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

    更新日期:2012-07-01 00:00:00

  • On the association of Poland anomaly and primary microcephaly.

    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

    pub_type: 杂志文章


    authors: Fryns JP,de Smet L

    更新日期:1994-10-01 00:00:00

  • Fetus with unbalanced translocation involving chromosomes 2 and 11.

    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

    pub_type: 杂志文章


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

    更新日期:1992-01-01 00:00:00

  • Dysmorphology of Barth syndrome.

    abstract::Barth syndrome is an X-linked recessive condition caused by defective remodelling of cardiolipins in mitochondrial membranes because of mutations in the tafazzin (TAZ1/G4.5) gene located at Xq28. The cardinal features of Barth syndrome are cardiac and skeletal myopathy and neutropaenia, reported in the initial descrip...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Hastings R,Steward C,Tsai-Goodman B,Newbury-Ecob R

    更新日期:2009-10-01 00:00:00

  • A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes.

    abstract::The ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3; OMIM #604292), the Rapp-Hodgkin syndrome (RHS), and various other syndromes are caused by mutations in the TP63 gene, which encodes a p53-like transcription factor. Here, we report on a woman aged 37 years and her daughter aged 3 years with...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Brueggemann FB,Bartsch O

    更新日期:2016-04-01 00:00:00

  • Macrocephaly-cutis marmorata telangiectatica congenita: a report on the natural history of a mild case.

    abstract::Macrocephaly-cutis marmorata telangiectatica congenita was first identified as a distinct syndrome in 1997. Since then there have been more than 10 further reports of the condition, several also comprising reviews of the earlier literature. Virtually all reported patients, however, are young children, and there is ver...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章


    authors: Canham NL,Holder SE

    更新日期:2008-10-01 00:00:00

  • Prenatal ultrasound findings in a fetus with otopalatodigital syndrome type II.

    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

    pub_type: 杂志文章


    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

  • Caudal regression syndrome and annular pancreas: a rare association.

    abstract::A female infant with caudal regression syndrome and annular pancreas is described. This is the first time this association appears to have been described. ...

    journal_title:Clinical dysmorphology

    pub_type: 信件


    authors: Romeo MG,Nicoletti MC,Saporito A,Cilauro S,Romeo DM,Smilari P

    更新日期:2000-10-01 00:00:00

  • Clinical variability in cerebro-oculo-nasal syndrome: report on two additional cases.

    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

    pub_type: 杂志文章


    authors: Guion-Almeida ML,Kokitsu-Nakata NM,Richieri-Costa A

    更新日期:2000-10-01 00:00:00

  • Supernumerary marker chromosome 7 and maternal uniparental disomy 7 in a boy with growth retardation and triangular face.

    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

    pub_type: 杂志文章


    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