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International Birth Defects Information Systems
Campomelic Dysplasia Dwarf Dwarfism

International Birth Defects Information Systems



Campomelic Dysplasia Dwarf Dwarfism


Topics: | Campomelic Dysplasia Dwarf Dwarfism | Acampomelic Campomelic Dysplasia | Sex Reversal | SOX9 | SRY-BOX 9 | SRY-Related HMG-BOX GENE 9 |

Related Topics: | Dwarfism |

Service Related: | Support Groups | Professional Associations | Key Information Sources |

Languages: | English | French | Ukrainian |

Specific Skeletal Dysplasias in Utero: Sonographic Diagnosis’
Radiology 1986; 159:237-242
Visitor Comments [ Illustrated Professionals Mainly ] 
A retrospective study was performed of 13 short-limbed fetuses ... with ultrasound ... thanatophoric dwarfism, achondrogenesis, osteogenesis imperfecta, and campomelic dwarfism. Death occurred in utero or within 2 weeks after delivery in all cases. ... The probable diagnosis of lethal short-limbed dwarfism was made antenatally using US in eleven of the fetuses. Spinal appearance, thoracic shape, and associated hydrops and polyhydramnios were most helpful in determining the specific type of dysplasia present. Lethal short-limbed skeletal dysplasia may be diagnosed confidently in utero using US examination; ...

Campomelic Dysplasia
Victor A. McKusick, OMIM, Johns Hopkins University, July 24, 2007
Visitor Comments [for Professionals mainly]
CLINICAL SYNOPSIS
INHERITANCE : Autosomal dominant ... Short limb dwarfism, prenatal onset; Birth length 35-49 cm; Failure to thrive in survivors ... Large anterior fontanelle; Macrocephaly; High forehead; Flat, small face; Micrognathia; Low-set ears; Hearing loss; Hypertelorism; Short palpebral fissures; Depressed nasal root; Cleft palate ... Congenital heart defects ... Tracheobronchomalacia; Respiratory distress; Apnea ... Small thoracic cage; Hypoplastic scapulae; Slender ribs; Absent sternal mineralization; Eleven pairs of ribs ... Hydronephrosis ... Enlarged and elongated skull; Hypoplastic, poorly ossified cervical vertebrae; Kyphoscoliosis; Non mineralized thoracic pedicles; Small iliac wings; Relatively wide pelvic outlet; Short phalanges both hands and feet; Talipes equinovarus; Anterior bowing of tibia; Short fibula; Mildly bowed femur; Absent ossification of proximal tibial, and distal femoral epiphysis; Cutaneous dimpling over bowed tibia; Hypotonia; Absent olfactory tract or bulbs; Hydrocephalus; ... Polyhydramnios; ... MOLECULAR BASIS : Caused by mutations in the SRY-box 9 gene ...

The Magic Foundation for Children's Growth and Related Adult Disorders
Magic Foundation ( Major Aspects of Growth In Children ), 2007
Visitor Comments [Support Groups]

Campomelic Syndrome, Long-Limb Type
Victor A. McKusick, OMIM, Johns Hopkins University, April 18, 1994
Visitor Comments [for Professionals mainly]
Khajavi et al. (1976) recognized three varieties of campomelic syndrome: (1) the long-limb form, in which the bent bones are of normal width and only slightly shortened and the arms are rarely involved; (2) the short-limbed form, in which the bent bones are short and wide; and (3) a short-limbed form with associated cloverleaf skull deformity ('Kleeblattschaedel') ...

General information guide to short stature (Australia).
Short Statured People of Australia Inc., December 28, 2005
Visitor Comments [Support Groups]
Diagnosis
- Examination, X - rays, Blood tests, Urine tests, Biopsy
Babies and young children ...
Family response ...
School ...
Higher education ...
Teenage years ...
Employment ...
A non - profit, self - help organization that provides support and information for people of short stature (dwarfs) …
Our aim is to assimilate people of short stature into society …

Links and References to Organizations with Information on Dwarfism and Skeletal Dysplasias
Greenberg Center for Skeletal Dysplasias
Visitor Comments [Support Groups]

Dwarfism Types & Diagnoses
Medical Resource Center, Little People of America, 2003
Visitor Comments [Support Groups]
There are an estimated 200 types, some of which have never even been named ...
Of the estimated 200 types of dwarfism, achondroplasia is by far the most common ...

Campomelic Dysplasia
Sandra R Silva, MD & Philippe Jeanty, MD, PhD, TheFetus.net, January 18, 2006
Camptomelic dysplasia, campomelic syndrome, campomelic dwarfism, congenital bowing of the limbs.
Campomelic dysplasia is a congenital disorder characterized by development of abnormal curvature of the long bones, particularly from lower extremities, such as femur and tibiae ... two varieties: “long limbed” and “short limbed,” ... The disorder affects 0.02:10,000 live births. Sex reversal occurs in some genotypic males with lack the H-Y antigen. Phenotypic sex ratio is approximately M1:F2.3, ... The transmission of campomelic dysplasia is still discussed. Autosomal recessive inheritance is thought to be the most common pattern, although it may happens also due to sporadic autosomal dominant mutation. Recurrence risk: ... in fact most are new mutations ... The most characteristic sign of campomelic dysplasia is the marked anterior bowing of the long bones, particularly of femur (figs. 1-2) and tibia. Severe angulation may mimic fractures. Other sonographic features that are commonly present include, growth restriction, bell-shaped narrow chest, eleven pair of ribs, hypoplasia of the mid-thoracic vertebral bodies, fibula, and scapula, scoliosis, shortness of the limbs, talipes equinovarus, tracheobronchomalacia, flat and small face, high forehead with prominent occiput, low nasal bridge, micrognathia, cleft of the soft palate, hypertelorism, low-set and malformed ears, hydrocephalus, and ambiguous genitalia ...

International Skeletal Dysplasia Society
International Skeletal Dysplasia Society, 2007
The principal aim of the Society shall be to promote scientific progress in the field of skeletal dysplasias and dysostoses ...

Dwarfism
Little People of America, 2007
Visitor Comments [Support Groups] [English] [French]
In Old English: Dwergh
In German Zwerg
A diminutive human being
Also a reference to anything much below the usual or average size; as, dwarf tree; dwarf honeysuckle
Midget ...
Offensive ... person ... of proportionate stature.
A small or miniature version of ...
A class of small objects ...
We are first and foremost human beings ... Use of the word "midget" to describe someone of short stature is considered extremely offensive by some people. It is better to refer to someone of short stature as a "Little Person" or "Dwarf" ...

L'Association québécoise des personnes de petite taille (Canada)
AQPPT, November 27, 2006
Visitor Comments [Support Groups] [English] [French]

Campomelic Dysplasia
I.B.I.S. Birth Defects, July 20, 2002
Visitor Comments [Ukrainian]
A fact sheet for professionals in Ukrainian
Definition ... Main diagnostic criteria ... Associated anomalies ... Prenatal diagnosis ... Differential diagnosis ... Prognosis ... Obstetrical tactics ... OMIM number

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Last Updated: 2009/03/09

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American Medical Association