Cortés-Ponce LK, Fuentes-Mallozzi DA

Language: Spanish
References: 14
Page: 101-105
PDF size: 775.62 Kb.

ABSTRACT

Introduction. The tanathophoric dysplasia (TD) is the most frequently of the skeletals dysplasias unsuitable with the life of the fetuses and newborns. The TD is autosomal dominant disease and is produced by a mutation of the fibroblastic growth factor repector located at chomose 4p 16.3. producing incomplete calcification of the osteocites. Mostly patients die by respiratory insuficiency. Case report. Female preterm product, giving the diagnosis in uterus, with clinical correlate and confirm with autopsy. Clinical features: small face, macrocephalus, frontal bossing, flattened nasal birdge, low set ears, hipoplasic limbs, narrow thorax, with small ribs, protuberant abdomen, micromelic limbs, with brachydactyly. Full body radiograph shows the short limb bones, telephone receiver-shaped femurs, flattened vertebral bodies with wide intervertebral spacing, short ribs with flared ends and an enlarged skull. All this with anatomopatological correlation. Conclusions. Being an uncommon disorder, we expose the clinic characteristics, radiological and anatomopatological findings, with a review of the literature and emphasize in the final genetic council.

REFERENCES

1. Maroteux P. Maladies osseus constutionnalles. In: Encycl. Méd. Chir. Pédiatrie. Paris: Editions Techniques; 1991, 4006 A10, p.12.

2. Bryan DH. Displasias esqueléticas hereditarias. En: Behrman RE, Kliegmnan RM. Arvin MA (eds.). Nelson Tratado de Pediatría. México: McGraw-Hill; 1997, p. 2460.

3. Kölble N, Sobetzko D, Ersch J, et al. Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia. Ultrasound Obst Gynecol 2002; 19: 92-8.

4. Cruz M, Bosch J. Atlas de síndromes pediátricos. 2a. Ed. Barcelona: Espax; 1998, p. 320-1.

5. Noronhal LL, Monte SPL, Everton M, et al. Displasia tanatofórica: relato de dois casos com estudo neuropatológico. Arq Neuropsiquiatr 2002; 60: 133-7.

6. Jiménez-González R. Neonatología: procedimientos diagnósticos y terapéuticos. 1a. Ed. Barcelona: Espax; 1995, p. 247.

7. García L, et al. Displasia tanatofórica. Bol Med Hosp Infant Mex 1986; 43: 119-22.

8. Robles C, Pardo RM, Centeno MF, et al. Enanismo tanatofórico en embarazo gemelar. An Esp Pediatr 2000; 52: 191-4.

9. Zafra-De la Rosa G. Displasia tanatofórica. En: Guizar- Vázquez J, Zafra-De la Rosa G. Atlas diagnóstico de síndromes genéticos. 1a. Ed. México: Manual Moderno; 2000, p. 326-7.

10. Hyun-Lee S, Yeon ChJ, Jin SM, Jee-Yeon M, Byoung HH, Young HL, et al. Fetal musculoskeletal malformations with a poor outcome: ultrasonographic, pathologic and radiographic findings. Korean J Radiol 2002; 3: 113-24.

11. Kaplan P. Conective tissue disordersand skeletal dysplasias. In: Taesch HW, Ballard AR (eds.). Avery´s Diseases of the Newborn. Philadelphia: W.B. Saunders; 1998, p. 289-304.

12. Fanarof AA, Martín RJ, Mertaz IR. Enfermedades del feto y del recién nacido. 3a. Ed. Buenos Aires: Panamericana; 1985, p. 570.

13. Guzmán-Toledano R. Defectos congénitos del recién nacido. 1a. Ed. México: Trillas; 1986, p. 84-6.

14. Grover SB , Pati NK. Radiological Quiz: musculoskeletal. Ind J Radiol Imag 2002; 12: 289-90.