Ochoa CMG, Guerra TA, González RRK, Rodríguez BR, Rodríguez BI, Jiménez GG, Pérez MPY

Language: Spanish
References: 8
Page: 102-104
PDF size: 145.20 Kb.

ABSTRACT

The Pena-Shokeir phenotype was first described in 1974, and was identified as a lethal disorder that involves multiple muscular contractures, facial abnormalities and pulmonary hypoplasia. Has been related with an autosomal recessive mode of inheritance. It is etiologically heterogeneous and makes difficult genetic counseling to evaluate recurrence risk. This is a case report of a female with no related familiar history. The fourth pregnancy, term spontaneous birth in a non hospital facility and referred to, our hospital. Dimorphism was observed characterized by mycrocephalus, arthrogryposis, camptodactyly, micrognathia and respiratory distress. A multidisciplinary study group, was formed because of multiple clinic characteristics, and tracheostomy, gastrostomy, correction casts in lower extremities, physical rehabilitation and genetic assessment were performed. Pena-Shokeir phenotype diagnosis was made with all the clinical features described. This disorder is rare and requires multidisciplinary support. Prognosis is bad for functionality and reserved for life due to chronic complications.

REFERENCES

1. Pena SDJ, Shokeir MHK. Syndrome of camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia: A lethal condition. J Pediatr 1974; 85: 37b.

2. Pena SDJ, Shokeir MHK. Syndrome of camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia: Further delineation and evidence of autosomal recessive inheritance. In: Bergsma D, Schimke RM: Cytogenetics environment and malformation syndromes. Birth defect original article series, Vol XII New York, Alan R. Liss, Inc, 1976: 201.

3. Jones KL. Smith’s recognizable patterns of human malformation. 5th edition 1997: 174-175.

4. Paladini D, Tartaglione A, Agangi A, Foglia S. Pena-Shokeir phenotype with variable onset in three consecutive pregnancies. Ultrasound Obstet Gynecol. 2001; 17(2): 163-5.

5. Hall JG. Invited editorial comment: Analysis of Pena-Shokeir phenotype. Am J Med Genet 1986; 25: 99.

6. Moessinger AL. Fetal akinesia deformation sequence: An animal model. Pediatrics 1983; 72: 857.

7. Perlman JM, Burns DK, Twickler DM, Weinberg AG. Fetal hypokinesia syndrome in the monochorionic pair of a triplet pregnancy secondary to severe dispruptive cerebral injury. Pediatrics 1995; 96: 521-3.

8. Tongsong T, Chanprapaph P, Khunamornpong S. Prenatal ultrasound of regional akinesia with Pena-Shokeir phenotype. Prenat Diag 2000; 20: 422-5.