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 similarity of physical signs in all four cases. The striking skin fragility which attends the phenotype is highly distinctive, so that the diagnosis may be suspected on clinical grounds. The confirmatory diagnostic procedures are discussed.

journal_name

Clin Dysmorphol

journal_title

Clinical dysmorphology

authors

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

subject

Has Abstract

pub_date

1995-01-01 00:00:00

pages

1-11

issue

1

eissn

0962-8827

issn

1473-5717

journal_volume

4

pub_type

杂志文章,评审
  • Antley-Bixler syndrome: case report and review of the literature.

    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

    pub_type: 杂志文章

    doi:

    authors: Crisponi G,Porcu C,Piu ME

    更新日期:1997-01-01 00:00:00

  • Syndromes associated with trichothiodystrophy.

    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

    pub_type: 杂志文章

    doi:

    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

  • A child with oligo-syndactyly and 'apple peel' bowel atresia.

    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

    pub_type: 杂志文章

    doi:

    authors: Cook JA,Bennett C

    更新日期:1995-01-01 00:00:00

  • A trisomy 2 fetus with severe neural tube defects and other abnormalities.

    abstract::Examination of an abortus from a 13 week miscarriage revealed a fetus of around 9 weeks developmental age with multiple abnormalities including microcephaly, iniencephaly and encephalocele continuous with cervical and thoracic spina bifida, whose karyotype was subsequently shown to be 47,XY, + 2. ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/00019605-200401000-00006

    authors: Seller MJ,Mazzaschi R,Ogilvie CM,Mohammed S

    更新日期:2004-01-01 00:00:00

  • Prader-Willi and Klinefelter syndrome: a coincidence or not?

    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

    pub_type: 杂志文章

    doi:10.1097/MCD.0b013e32801472cf

    authors: Vasudevan PC,Quarrell OW

    更新日期:2007-04-01 00:00:00

  • An unusual fetus with complete absence of thoracic, lumbar and sacral vertebrae, bilateral renal agenesis, VSD, meningomyelocele, imperforate anus, and teratoma.

    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

    pub_type: 杂志文章

    doi:10.1097/00019605-200101000-00012

    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

  • 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

    doi:10.1097/00019605-199604000-00012

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

    更新日期:1996-04-01 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

    doi:10.1097/00019605-200301000-00013

    authors: Datta H,Datta S

    更新日期:2003-01-01 00:00:00

  • A new syndrome within the oculo-auriculo-vertebral spectrum: microtia, atresia of the external auditory canal, vertebral anomaly, and complex cardiac defects.

    abstract::We describe a patient whose features represent a new entity within the oculo-auriculo-vertebral spectrum. The boy had right microtia, atresia of the external auditory canal, growth retardation, a complex heart defect, and extra-lobar pulmonary sequestration. The cardiac anomalies were persistent left superior vena cav...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/00019605-200501000-00006

    authors: Derbent M,Orün UA,Varan B,Mercan S,Yilmaz Z,Sahin FI,Tokel K

    更新日期:2005-01-01 00:00:00

  • Exclusion of the p75 neurotrophin receptor gene as a candidate gene for Meckel syndrome.

    abstract::Nerve growth factor receptor p75 (NGFR) gene was investigated as a potential candidate gene in Meckel syndrome (MKS) because of its important role in embryonic development, chromosomal localization adjacent to the MKS locus and Meckel syndrome-resembling findings in knock-out mice phenotype. The sequence analysis of t...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/00019605-199707000-00003

    authors: Wartiovaara K,Paavola P,Suvanto P,Paulin L,Saarma M,Peltonen L,Sariola H

    更新日期:1997-07-01 00:00:00

  • Absent iris stroma, narrow body build and small facial bones: a new association or variant of SHORT syndrome?

    abstract::We report four patients from two unrelated families with strikingly similar facial appearance, short stature, narrow body build and, in two of the patients, abnormalities of the iris stroma. The birth of an affected offspring suggests that this syndrome is likely to have autosomal dominant inheritance. The facial appe...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/00019605-199510000-00005

    authors: Bankier A,Keith CG,Temple IK

    更新日期:1995-10-01 00:00:00

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

    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

    pub_type: 杂志文章,评审

    doi:

    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

  • 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

    doi:10.1097/00019605-200009020-00005

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

    更新日期:2000-04-01 00:00:00

  • Bilateral hydronephrosis due to megacalicosis as a prenatal sonographic finding in a female with Schinzel-Giedion syndrome.

    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

    pub_type: 信件

    doi:

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

    更新日期:1999-10-01 00:00:00

  • Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?

    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

    pub_type: 杂志文章

    doi:10.1097/MCD.0000000000000344

    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

  • Post-axial limb defects with maternal sodium valproate exposure.

    abstract::A male child is described with bilateral talipes equinovarus, absent fibulae with bowing and shortening of the tibiae and facial dysmorphic features. His mother was on a daily dose of 2000 mg sodium valproate for convulsions. This case raises the possibility that postaxial limb defects might be caused by intrauterine ...

    journal_title:Clinical dysmorphology

    pub_type: 信件

    doi:10.1097/00019605-200009020-00015

    authors: Pandya NA,Jani BR

    更新日期:2000-04-01 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

    doi:10.1097/00019605-200507000-00013

    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

  • Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome.

    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

    pub_type: 杂志文章

    doi:

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

    更新日期:1993-07-01 00:00:00

  • Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome.

    abstract::The megalencephaly capillary malformation syndrome (MCAP, OMIM 602501) is known to be associated with mosaic mutations in PIK3CA occurring during embryogenesis. Standard sequencing technologies are relatively poor at indentifying sequence changes that only affect a small percentage of cells, and the mutations are freq...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/MCD.0000000000000099

    authors: McDermott JH,Byers H,Clayton-Smith J

    更新日期:2016-01-01 00:00:00

  • Pathogenesis of retinoid-induced hindbrain malformations in an experimental model.

    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

    pub_type: 杂志文章

    doi:

    authors: Alles AJ,Sulik KK

    更新日期:1992-10-01 00:00:00

  • Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: another observation.

    abstract::We report a Japanese girl with brachycephaly, a wide forehead, hypertelorism, macroblepharon with eyelid colobomas, ectropion, a broad nasal root, a depressed nasal tip, macrostomia, a small and grooved chin, ear anomalies, a structural anomaly of the corpus callosum, dilatation of the fourth ventricle, a urogenital s...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/00019605-200009010-00012

    authors: Masuno M,Imaizumi K,Aida N,Nishimura G,Kimura J,Kuroki Y

    更新日期:2000-01-01 00:00:00

  • Chromosome Y polysomy: a non-mosaic 49,XYYYY case.

    abstract::Karyotypic abnormalities involving the Y chromosome are common. The clinical spectrum associated with Y chromosome trisomy, tetrasomy or pentasomy is imprecise, as still very few cases have been reported. All cases, however, seem to exhibit some degree of mental retardation and minor facial dysmorphisms. The case we d...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章,评审

    doi:10.1097/01.mcd.0000228423.04908.0c

    authors: Paoloni-Giacobino A,Lespinasse J

    更新日期:2007-01-01 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

    doi:

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

    更新日期:1999-01-01 00:00:00

  • Familial 18p deletion syndrome and 18p partial trisomy inherited from a mother with balanced translocation.

    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

    pub_type: 杂志文章

    doi:10.1097/MCD.0b013e328343b9b9

    authors: Koshy B,Mandal K,Srivastava VM,Loius PT,Danda S

    更新日期:2011-07-01 00:00:00

  • Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor.

    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

    pub_type: 杂志文章

    doi:10.1097/00019605-200110000-00005

    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

  • Humoral immunodeficiency with facial dysmorphology and limb anomalies: a new syndrome.

    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

    pub_type: 杂志文章

    doi:10.1097/00019605-200101000-00001

    authors: Hoffman HM,Bastian JF,Bird LM

    更新日期:2001-01-01 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

    doi:

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

    更新日期:1993-04-01 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

    doi:10.1097/MCD.0000000000000117

    authors: Brueggemann FB,Bartsch O

    更新日期:2016-04-01 00:00:00

  • Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant?

    abstract::We report on a female infant with postaxial polydactyly of the hands, preaxial polydactyly of the right foot, cleft palate, microglossia and tongue hamartomata consistent with an oral-facial-digital syndrome (OFDS). The patient also had optic nerve colobomata, a Dandy-Walker malformation, micrognathia and apneic spell...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/00019605-200201000-00004

    authors: Toriello HV,Lemire EG

    更新日期:2002-01-01 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

    doi:10.1097/MCD.0b013e32834cef46

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

    更新日期:2012-01-01 00:00:00