Prenatal diagnosis of femoral-facial syndrome: report of two cases.

BACKGROUND: Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facial syndrome (FHUFS) is a rare disorder, which has been more frequently described in females. Only a few cases diagnosed prenatally have been reported so far in the literature. FFS is characterized by femoral hypoplasia and various facial abnormalities, which can be associated with a variety of other malformations CASES: In this report, we present two male fetuses which were diagnosed with FFS after detection of short femora, micrognathia, and other anomalies by ultrasonography at the age of 14 and 16 weeks, respectively. The sonographic findings were confirmed at autopsy. The differential diagnosis of FFS with other disorders characterized by hypoplastic femora is discussed CONCLUSION: FFS represents a severe condition; hence, the importance of an early prenatal diagnosis, especially in light of offering counseling for affected parents.

Caudal dysgenesis, sirenomelia, and situs inversus totalis: a primitive defect in blastogenesis.

Caudal dysgenesis (CD) constitutes a heterogeneous spectrum of congenital caudal anomalies, including varying degrees of agenesis of the vertebral column, as well as anorectal and genitourinary anomalies. Sirenomelia, characterized by a fusion of the lower limbs, could represent the most severe end of this spectrum. The two main debated pathogenic hypotheses are an aberrant vascular supply versus a primary axial mesoderm defect. We present the autopsy findings of two fetuses of non-diabetic mothers, with normal karyotype. Both fetuses presented situs inversus associated with a CD, in one case consisting of sirenomelia, establishing a very rare association profile that might be random. This association also suggests the occurrence of a common pathogenic mechanism, in accordance to recent genetic data, such as displayed in the Kif3A murine mutation phenotype. Some cases of sirenomelia and CD could represent developmental field defects of blastogenesis involving the caudal mesoderm, rather than being related to vascular insufficiency.

Bilateral cystic dysplasia of the rete testis with renal adysplasia.

Cystic dyplasia of the rete testis (CDRT) is an uncommon, generally unilateral lesion characterized by anastomosing cystic spaces lined by a flattened simple cuboidal epithelium in the rete testis. In the literature this lesion often is associated with an ipsilateral urogenital lesion such as renal agenesia or multicystic dysplasia of the kidney, in order of frequency. The pathogenesis is explained by some authors by their common embryologic origin. We are reporting the finding of bilateral CDRT associated with ultrasound-diagnosed renal adysplasia in a 20-week gestational age fetus with oligohydramnios. Although CDRT has been referred to as being associated with multicystic renal dysplasia or renal agenesis, the present case appears to be unique in combining all the malformations together.