Prenatal diagnosis of Gollop‐Wolfgang Complex

Abstract

The Gollop-Wolfgang Complex (GWC, MIM% 228 250) is a skeletal disorder characterized by the association of bifid femur, tibial agenesia, and ectrodactyly with a frequently asymmetric pattern. Since this disorder was first described by Gollop et al. (1980), only 33 cases showing the typical limb abnormalities of GWC have been reported, some of which were affected by a more complex multiple-malformation condition (van de Kamp, 2005).Here we describe a GWC case that was diagnosed prenatally. This was the first pregnancy of a healthy, nonconsanguineous couple. The mother was 39 years old at conception. The family history was unremarkable, and no fetal exposure to drugs or medications, alcohol, tobacco smoke, or other teratogenic substances was referred. The pregnancy had been complicated by threatened miscarriage in the 7th and 13th gestational week. In the 20th week an ultrasound scan revealed a complex skeletal malformation with bifid distal right femur, right tibial agenesis (Figure 1), contracture of the right knee, club feet with two metatarsal bones and three digits missing on the right and one metatarsal bone and one digit missing on the left, and an abnormal right hand with agenesis of the first metacarpal bone and of the first three fingers. The length of the right radius and left tibia were on the 10th centile, while all the other long bones were on the 50th centile.The couple was counseled, and amniocentesis was offered and subsequently performed: The fetal karyotype was normal (46,XX). The pregnancy was terminated and laboratory and histological examinations were carried out on the fetus. Karyotype examination on fetal fibroblasts and an array-CGH analysis on fetal blood taken by umbilical cord were normal. Karyotyping was performed using standard cytogenetic techniques. Array-CGH analysis was conducted using a 0.5 Mb resolution BAC

A case report of Gollop-Wolfgang complex in 12 years old boy

“…Forzano et al have stated that tibia agenesis-ectrodactyly syndrome was the only differential diagnosis regarding the Gollop-Wolfgang complex [12] . Moreover, several additional internal malformations in association with bifid femur and tibia agenesis have been discussed in the medical literature.…”

Gollop-Wolfgang Complex: Clinical and Imaging Implications

“…Amniocentesis can be performed for chromosomopathies, detection of chromosomal abnormalities, and genetic counseling. 4 11 12 Prenatal exposure to valproic acid is associated with an increased risk of congenital malformations, especially limb defects such as radial ray defects. 7 …”

“…Regarding the differential diagnosis for this disease, Forzano et al stated that the tibial agenesis–ectrodactyly syndrome is the only condition that presents a significant overlap with Gollop-Wolfgang complex. 12 Additional anomalies that should be excluded for the diagnosis of Gollop-Wolfgang complex are cleft palate, cleft lip, and ocular abnormalities. In our case, the presence of a distal bifid femur, absent radii, ectrodactyly, ASD, VSD, PDA, and tracheoesophageal fistula leads the pediatric radiology team to a clinical and radiologic diagnosis of Gollop-Wolfgang complex.…”