Taybi-Linder syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.1 | Congenital malformation syndromes that are predominantly associated with short stature |
| ICD-10 online (WHO version 2019) | |
The Taybi Linder syndrome is a very rare congenital disease with the main features microcephaly , skeletal dysplasia and dwarfism .
Synonyms are: MOPD types I and III; Microcephalic osteodysplastic primordial short stature type Taybi-Linder; Microcephalic primordial short stature Crachami type
The term refers to the authors of the first description in 1967 by the Iranian - US pediatric radiologist Hooshang Taybi along with the pediatric radiologist David Linder (Lindner).
distribution
The frequency is given as less than 1 in 1,000,000, so far about 30 affected people have been reported. Inheritance is autosomal - recessive .
root cause
The disease are mutations in RNU4ATAC - gene on chromosome 2 locus q14.2 basis.
Clinical manifestations
Clinical criteria are:
- Intrauterine growth retardation , low birth weight
- Microcephaly , brain abnormalities such as lissencephaly , corpus callosum agenesis , epilepsy
- Facial dysmorphism with enlargement of the eyes , nose , lips , mouth , retro genius , cleft palate , deep-seated auricle, thin scalp hair
- Skeletal abnormalities with platyspondyly , metaphyseal dysplasia, particularly on the proximal thigh bone , hypoplasia of the pelvis and acetabulum , long collarbone , incomplete arching of the cervical spine
- delayed skeletal maturity
- Short fingers and toes, relatively large hands / feet, tendency to dislocate hips and elbows
diagnosis
The diagnosis is based on clinical and radiological findings. Prenatal diagnosis in affected families using ultrasound in the 20th week has been reported.
Differential diagnoses
Must be distinguished are the Seckel syndrome , MOPD type II , other forms of minority growth.
course
The prognosis is poor, most of the patients described died in the first year of life.
history
From Frank Majewski the Taybi-Linder syndrome as Type 1 "osteodysplastischen microcephalic primordial dwarfism" among the (MOPD), the type Crachami was subsumed as type. 3 It is assumed that these two types are different forms of the same syndrome.
literature
- A. Putoux, A. Alqahtani, L. Pinson, AD Paulussen, J. Michel, A. Besson, S. Mazoyer, I. Borg, S. Nampoothiri, A. Vasiljevic, A. Uwineza, D. Boggio, F. Champion , CE de Die-Smulders, T. Gardeitchik, WK van Putten, MJ Perez, Y. Musizzano, F. Razavi, S. Drunat, A. Verloes, R. Hennekam, L. Guibaud, E. Alix, D. Sanlaville, G. Lesca, P. Edery: Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome. In: Clinical genetics. Volume 90, number 6, 12 2016, pp. 550-555, doi: 10.1111 / cge.12781 , PMID 27040866 .
- MJ Pierce, RP Morse: The neurologic findings in Taybi-Linder syndrome (MOPD I / III): case report and review of the literature. In: American journal of medical genetics. Part A. Volume 158A, number 3, March 2012, pp. 606-610, doi: 10.1002 / ajmg.a.33958 , PMID 22302400 (review).
- S. Sigaudy, A. Toutain, A. Moncla, C. Fredouille, B. Bourlière, S. Ayme, N. Philip: Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature. In: American journal of medical genetics. Volume 80, Number 1, October 1998, pp. 16-24, PMID 9800907 (review).
Individual evidence
- ↑ a b c d e Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ a b c d e f short stature, microcephalic osteodysplastic primordial, types I and III. In: Orphanet (Rare Disease Database).
- ↑ Who named it
- ↑ H. Taybi, D. Linder: Congenital familial dwarfism with cephaloskeletal dysplasia. In: Radiology Vol. 89, pp. 275-281, 1967.
- ↑ Microcephalic osteodysplastic primordial dwarfism, type I. In: Online Mendelian Inheritance in Man . (English)
- ^ F. Majewski, T. Goecke: Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome. In: American journal of medical genetics. Volume 12, Number 1, May 1982, pp. 7-21, doi: 10.1002 / ajmg.1320120103 , PMID 7046443 (review).
- ^ F. Majewski, M. Ranke, A. Schinzel: Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. In: American journal of medical genetics. Volume 12, Number 1, May 1982, pp. 23-35, doi: 10.1002 / ajmg.1320120104 , PMID 7201238 .
- ^ F. Majewski, M. Stoeckenius, H. Kemperdick: Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles – osteodysplastic primordial dwarfism type III. In: American journal of medical genetics. Volume 12, Number 1, May 1982, pp. 37-42, doi: 10.1002 / ajmg.1320120105 , PMID 7201239 .
