Pena Shokeir Syndrome I.

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Pena Shokeir syndrome I is a very rare congenital disease with the main features of a fetal akinesia with the typical changes of arthrogryposis multiplex congenita with pulmonary hypoplasia .

Pena-Shokeir syndrome is also called pseudo-trisomy 18 due to the many similarities such as ankylosis , camptodactyly and vertical talus to trisomy 18 . Further synonyms are: fetal akinesia / hypokinesia sequence; Arthrogryposis multiplex congenita with pulmonary hypoplasia; FADS (Fetal Akinesia Deformation Syndrome)

Sometimes the term Pena Shokeir syndrome , which also includes the COFS syndrome as type II, is used synonymously for type I.

The names refer to the authors of the first description from 1974 by the Canadian human geneticists SDJ Peña and MHK Shokeir.

distribution

The frequency is given as less than 1 in 1,000,000, so far about 100 people have been reported. Inheritance is autosomal - recessive .

root cause

The cause is not uniform.

The disease is based on mutations with autosomal recessive inheritance in about half of the patients :

There is also an inherited X chromosomal form.

Clinical manifestations

The leading clinical criterion is the reduced or no mobility of the fetus with the consequences:

In addition, there can be cleft palates and heart defects , later cryptorchidism or short bowel syndrome .

diagnosis

The risk of recurrence for sporadic diseases is between 0.01 and 25%.

The diagnosis can already be suspected intrauterine by means of fine ultrasound based on polyhydramnios , ankylosis, edema of the scalp , decreased chest movements and pulmonary hypoplasia.

Differential diagnosis

Other causes ( myogenic , neurogenic , ischemic , toxic ) of a fetal sedentary lifestyle (akinesia) must be distinguished.

forecast

About 30% of the children affected are born stillbirths , and many of those born alive die as a result of pulmonary hypoplasia.

literature

  • S. Kaya, FK Kaya, Ö. Hızlı, MM Paparella, S. Cure: Otopathologic Findings of Pena-Shokeir Syndrome Type I. In: The Annals of otology, rhinology, and laryngology. Vol. 125, No. 8, August 2016, pp. 677-681, doi: 10.1177 / 0003489416642789 , PMID 27067155 .
  • I. Torii, S. Morikawa, J. Tanaka, J. Takahashi: An autopsy case of Pena-Shokeir syndrome: severe retardation of skeletal muscle development compared with neuronal abnormalities. In: Pediatric pathology & molecular medicine. Vol. 21, No. 5, 2002 Sep-Oct, pp. 467-476, doi: 10.1080 / 15227950290104797 , PMID 12396902 .

Individual evidence

  1. ↑ a b c d e Fetal akinesia / hypokinesia sequence. In: Orphanet (Rare Disease Database).
  2. ↑ SD Pena, MH Shokeir: Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition. In: The Journal of pediatrics. Vol. 85, No. 3, September 1974, pp. 373-375, PMID 4431498 .
  3. ↑ Fetal akinesia deformation sequence.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ fetal akinesia syndrome, X-linked.  In: Online Mendelian Inheritance in Man . (English)
  5. ^ RH MacMillan, GM Harbert, WD Davis, TE Kelly: Prenatal diagnosis of Pena-Shokeir syndrome type 1. In: American journal of medical genetics. Vol. 21, No. 2, June 1985, pp. 279-284, doi: 10.1002 / ajmg.1320210209 , PMID 3893126 .
  6. ↑ H. Ochi, E. Kobayashi, K. Matsubara, T. Katayama, M. Ito: Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I. In: Ultrasound in obstetrics & gynecology: the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. Vol. 17, No. 6, June 2001, pp. 546-547, doi: 10.1046 / j.1469-0705.2001.00405.x , PMID 11422985 .

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