Presentation
Abstract Two sisters and an unrelated girl presented a distinct intrauterine growth retardation-malformation syndrome with short stature, microcephaly, pectus excavatum, hip dislocation, hypoplastic pubic region and genitalia, camptodactyly, talipes, [unboundmedicine.com]
Pujol and Jos{\'e} S{\'a}nchez-Corona}, journal={Clinical genetics}, year={1985}, volume={28 1}, pages={ 54-60 } } José María Cantú, D García-cruz, +4 authors José Sánchez-Corona Published 1985 in Clinical genetics Two sisters and an unrelated girl presented [semanticscholar.org]
PMID: 12401988 Issn Print: 0962-8827 Publication Date: 2002/10/01 + Author Information Author Information: División de Genética, CIBO, Instituto Mexicano del Seguro Social Abstract A Mexican family is presented with the main clinical features of camptodactyly [insights.ovid.com]
Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age. [books.google.de]
causing mechanical stretch and deviation of the medial soft tissue. genetics 90% of cases of hallux valgus developing under age 60 years are genetic and presumably relate to production of elastin patients presenting for treatment suggest a 15:1 ratio [ozemedicine.com]
Jaw & Teeth
- Receding Chin
chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Short neck Decreased length of neck 0000470 Small hypothenar eminence 0010487 Small thenar eminence 0001245 Spina bifida occulta 0003298 Symblepharon Eyelid stuck to eyeball 0430007 Telecanthus [rarediseases.info.nih.gov]
Face, Head & Neck
- Short Neck
neck Hypotelorism Pectus excavatum Osteopenia Single transverse palmar crease Intrauterine growth retardation Talipes equinovarus Hallux valgus Short 2nd ... ... [familydiagnosis.com]
[…] second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. [malacards.org]
4th toe Short fourth toe 0008093 Short middle phalanx of finger Short middle bone of finger 0005819 Short neck Decreased length of neck 0000470 Single transverse palmar crease 0000954 Slender long bone Long bones slender Thin long bones [ more ] 0003100 [rarediseases.info.nih.gov]
[…] toes 2, 4 and 5, patella hypoplasia, short neck, low-set ears, microcephaly, cuboid vertebral bodies, and others. [omim.org]
Workup
X-Ray
- Delayed Bone Age
Radiographic studies revealed spina bifida occulta at cervical and dorso-lumbar levels, increased bone trabeculae, cortical thickening and delayed bone age. [insights.ovid.com]
Fragility 516 Multiple Radiolucent Defects Lytic Lesions 527 Osteolyses 538 Delayed Bone Age 548 Asymmetry Hemihypertrophy Hemiatrophy 562 Aarskog Syndrome 576 Achondroplasia 582 Acrofacial DysostosisNager Type 588 Asphyxiating Thoracic Dysplasia 597 [books.google.es]
+ + + Uni or bilateral dislocation of the hip + + + Slenderness and bands or growth arrest on the long bones Hypoplastic, aplastic andlor displaced patella + + f Back displaced 2nd metatarsal + + + Generalized osteopenia + + + Delayed bone age + + + [vdocuments.site]
Treatment
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy. [books.google.es]
[…] if hallux valgus is present, causing mechanical stretch and deviation of the medial soft tissue. genetics 90% of cases of hallux valgus developing under age 60 years are genetic and presumably relate to production of elastin patients presenting for treatment [ozemedicine.com]
Inside these pages, you will learn what it is, who is most at risk for developing it, what causes it, and some treatment plans to help those that do have it feel better. [arthritisresearch.us]
Prognosis
The recommended chemotherapy is based on platin and taxanes for 6 cycles, except in Stage IA, IB and grade 1, which have a good prognosis. In advanced stages, primary cytoreduction is recommended as initial treatment. [science.gov]
Epidemiology
Epidemiological study of 500 cases. Unfallchirurg 2001; 104: 303-11 Bulutlar G, Yazici H, Ozdogan H, Schreuder I. A familial syndrome of pericarditis, arthritis, camptodactyly, and coxa vara. [arthritisresearch.us]
PMID:11689700 Epidemiological study of hepatitis B and C in a municipality with rural characteristics: Cássia dos Coqueiros, State of São Paulo, Brazil. [science.gov]
Prevention
The deployment of more policemen was the strategy most cited and strengthening the family unit was the most commented preventative measure. [science.gov]