Chondrodysplasia punctata: a clinical diagnostic and radiological review.

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 biochemical and molecular basis of a number of CDP syndromes has recently been elucidated and a new aetiological classification has emerged. Here we provide an updated version with an overview of the different types of CDP, a discussion of the aetiology and a description of the clinical and radiographic findings. An investigative guideline to help determine the exact diagnosis in new cases is also presented.

journal_name

Clin Dysmorphol

journal_title

Clinical dysmorphology

authors

Irving MD,Chitty LS,Mansour S,Hall CM

doi

10.1097/MCD.0b013e3282fdcc70

subject

Has Abstract

pub_date

2008-10-01 00:00:00

pages

229-41

issue

4

eissn

0962-8827

issn

1473-5717

pii

00019605-200810000-00001

journal_volume

17

pub_type

杂志文章,评审
  • 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

  • Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth.

    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

    pub_type: 杂志文章

    doi:

    authors: Clayton-Smith J,Krajewska-Walasek M,Fryer A,Donnai D

    更新日期:1994-04-01 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

  • Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?

    abstract::We report a female child born at 36 weeks of gestation with multiple abnormalities including dysmorphic and coarse facial features with features of mandibulofacial dysostosis that include bilateral microtia with the absence of external auditory meati and Mondini dysplasia as well as, duodenal atresia, intestinal malro...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章,评审

    doi:10.1097/01.mcd.0000198932.09330.33

    authors: Maegawa GH,Chitayat D,Blaser S,Whyte H,Thomas M,Kim P,Kim J,Taylor G,McNamara PJ

    更新日期:2006-10-01 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

    doi:10.1097/MCD.0b013e3282f5280f

    authors: Mandal K,Phadke SR,Kalita J

    更新日期:2008-04-01 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

    doi:10.1097/00019605-200210000-00005

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

    更新日期:2002-10-01 00:00:00

  • Supernumerary nostrils together with oesophageal atresia and patent ductus arteriosus.

    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

    pub_type: 杂志文章

    doi:10.1097/MCD.0b013e3281e668fd

    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

  • New clinical findings in the Richieri-Costa/Pereira type of acrofacial dysostosis.

    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

    pub_type: 杂志文章

    doi:10.1097/MCD.0b013e3280464ff6

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

    更新日期:2007-04-01 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

  • 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

    doi:

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

    更新日期:1995-01-01 00:00:00

  • Yunis-Varon syndrome: the first case of German origin.

    abstract::The first case of Yunis-Varon-syndrome in a child of German origin is reported. The child died at the age of 3 months. The literature is reviewed. ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:

    authors: Rabe H,Brune T,Rossi R,Steinhorst V,Jorch G,Horst J,Wittwer B

    更新日期:1996-07-01 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

    doi:10.1097/MCD.0b013e3283136948

    authors: Canham NL,Holder SE

    更新日期:2008-10-01 00:00:00

  • A case of diencephalic syndrome presenting with isolated lipodystrophy.

    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

    pub_type: 杂志文章

    doi:10.1097/MCD.0000000000000235

    authors: McDermott JH,Harris J,Fédée J,Skae M,Semple R,Douzgou S

    更新日期:2018-10-01 00:00:00

  • Early puberty in Williams syndrome.

    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

    pub_type: 杂志文章

    doi:

    authors: Cherniske EM,Sadler LS,Schwartz D,Carpenter TO,Pober BR

    更新日期:1999-04-01 00:00:00

  • Congenital deficiency of the fibula with ipsilateral iliac horn and absence of the kidney.

    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

    pub_type: 杂志文章

    doi:

    authors: Haga N,Lee K,Nakamura K,Okazaki Y,Mamada K,Kurokawa T

    更新日期:1997-04-01 00:00:00

  • Nicolaides-Baraitser syndrome: two new cases with autism spectrum disorder.

    abstract::Nicolaides-Baraitser syndrome is a rare clinical condition characterized by mental retardation with impairment of expressive language, short stature, microcephaly, sparse hair, typical facial dysmorphisms, and interphalangeal joint swellings. To date 24 cases have been reported, most of them being sporadic. The geneti...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/MCD.0b013e32833edaa9

    authors: Gana S,Panizzon M,Fongaro D,Selicorni A,Memo L,Scandurra V,Vannucci C,Bigozzi M,Scordo MR

    更新日期:2011-01-01 00:00:00

  • Facial asymmetry with colon atresia.

    abstract::This case report describes an unusual combination of birth defects in a black South African child presenting with colon atresia, facial symmetry due to facial microsomia and brain abnormalities. The suspected aetiology is thought to be vascular disruption in the late embryonic period. ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/01.mcd.0000175604.03221.ad

    authors: Gregersen N

    更新日期:2006-01-01 00:00:00

  • A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.

    abstract::Acrocallosal syndrome (ACLS) is a rare genetic disorder typically characterized by craniofacial dysmorphism, agenesis, or hypoplasia of the corpus callosum, and duplication of the phalanges of halluces and/or the thumbs. ACLS is a recessive ciliopathy caused by mutations in KIF7. We identified a Turkish family who had...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/MCD.0000000000000080

    authors: Karaer K,Yuksel Z,Ichkou A,Calisir C,Attié-Bitach T

    更新日期:2015-04-01 00:00:00

  • Unilateral tibial aplasia, pre-axial polysyndactyly, vertebral anomalies and imperforate anus.

    abstract::Tibial hemimelia is a rare malformation that can be isolated or found with other skeletal abnormalities. We describe a fetus with unilateral tibial aplasia, ipsilateral pre-axial polysyndactyly and femoral hypoplasia, ventriculomegaly, anal atresia and rib and vertebral anomalies. We believe that this combination of m...

    journal_title:Clinical dysmorphology

    pub_type: 信件

    doi:

    authors: Slavotinek A,Clayton-Smith J,Kerr B

    更新日期:1999-07-01 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

    doi:

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

    更新日期:1993-01-01 00:00:00

  • De la Chapelle dysplasia (atelosteogenesis type II): case report and review of the literature [corrected].

    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

    pub_type: 杂志文章,评审

    doi:

    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

  • 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

    doi:

    authors: Walpole IR,Parry T,Goldblatt J

    更新日期:1999-10-01 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

    doi:10.1097/MCD.0b013e3283520539

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

    更新日期:2012-07-01 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

  • A familial dysmorphic condition with hypotonia, seizures and precocious puberty.

    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

    pub_type: 杂志文章

    doi:10.1097/MCD.0b013e328302f0c4

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

    更新日期:2008-07-01 00:00:00

  • Siblings with Bohring-Opitz syndrome.

    abstract::We describe a brother and sister with Bohring-Opitz syndrome and suggest that autosomal recessive inheritance may occur in this condition. ...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/00019605-200301000-00003

    authors: Greenhalgh KL,Newbury-Ecob RA,Lunt PW,Dolling CL,Hargreaves H,Smithson SF

    更新日期:2003-01-01 00:00:00

  • Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature.

    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

    pub_type: 杂志文章,评审

    doi:10.1097/MCD.0b013e328323a7dd

    authors: Vendramini-Pittoli S,Kokitsu-Nakata NM

    更新日期:2009-04-01 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

  • 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

    doi:10.1097/00019605-199707000-00013

    authors: Holmes LB

    更新日期:1997-07-01 00:00:00

  • Cantu syndrome and lymphoedema.

    abstract::Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema, as described earlier in a male patient with this syndrome. The aim of this study is to report the clinical characteristics of these three new cases and to emphasize that lymphoedema, as obse...

    journal_title:Clinical dysmorphology

    pub_type: 杂志文章

    doi:10.1097/MCD.0b013e32833d015c

    authors: García-Cruz D,Mampel A,Echeverria MI,Vargas AL,Castañeda-Cisneros G,Davalos-Rodriguez N,Patiño-Garcia B,Garcia-Cruz MO,Castañeda V,Cardona EG,Marin-Solis B,Cantu JM,Nuñez-Reveles N,Moran-Moguel C,Thavanati PK,Ramirez-Garcia

    更新日期:2011-01-01 00:00:00