Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): Distinctive features and prenatal detection

Abstract

Schinzel phocomelia syndrome is characterized by limb/pelvis hypoplasia/aplasia: specifically, intercalary limb deficiencies and absent or hypoplastic pelvic bones. The phenotype is similar to that described in a related multiple malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome. The additional important feature of large parietooccipital skull defects without meningocele, encephalocele, or other brain malformation has thus far been reported only in children with Schinzel phocomelia syndrome. We recently evaluated a boy affected with Schinzel phocomelia born to nonconsanguineous healthy parents of Mexican origin. A third-trimester fetal ultrasound scan showed severe limb deficiencies and an absent pelvis. The infant died shortly after birth. Dysmorphology examination, radiographs, and autopsy revealed quadrilateral intercalary limb deficiencies with preaxial toe polydactyly; an absent pelvis and a 7 x 3-cm skull defect; and extraskeletal anomalies including microtia, telecanthus, micropenis with cryptorchidism, renal cysts, stenosis of the colon, and a cleft alveolar ridge. A normal 46,XY karyotype was demonstrated, and autosomal recessive inheritance was presumed on the basis of previously reported families. This case report emphasizes the importance of recognizing severe pelvic and skull deficiencies (either post- or prenatally) in differentiating infants with Schinzel phocomelia from other multiple malformation syndromes that feature intercalary limb defects, including thalidomide embryopathy and Roberts-SC phocomelia.

A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al‐Awadi/Raas‐Rothschild syndrome?

“…The present patient resembled patients affected with Schinzel phocomelia syndrome, by virtue of his intercalary limb deficiencies, genitourinary anomalies, and severe pelvic malformation. However, the absence of skull defects rules out Schinzel phocomelia syndrome [Olney et al, 2001]. The pregnancy history did not include the ingestion of thalidomide [Smithhells and Newman, 1992] or the presence of diabetic mellitus [Grix, 1982].…”

“…The syndrome of severe limb, pelvic, and genital malformation has been described in Al-Awadi/Raas-Rothschild syndrome (AARRS) or limb/pelvis-hypoplasia/aplasia syndrome [Al-Awadi et al, 1985;Richieri-Costa, 1987;Raas-Rothschild et al, 1988;Camera et al, 1993;Teebi, 1993], Roberts syndrome (RS) [Van Der Berg and Francke, 1993], Schinzel phocomelia syndrome [Olney et al, 2001], and femur-fibula-ulna (FFU) syndrome [Zlotogora et al, 1983] (Table I). We report on a 3-year-old boy affected with severe malformation of limbs, pelvis, and genital organs.…”

A case of phocomalia in young primi gravida

“…However, various abnormalities can occur to the limbs and bones. 7 Usually the upper limbs are not fully formed and sections of the "hands and arms may be missing." Short arm bones, fused fingers, and missing thumbs will often occur.…”

Phocomelia – A case study

“…Typically the symptoms of phocomelia syndrome are undeveloped limbs and absent pelvic bones; however, various abnormalities can occur to the limbs and bones [3]. Usually the upper limbs are not http://www.mednifico.com/index.php/elmedj/article/view/150 fully formed and sections of the "hands and arms may be missing."…”