Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review.

Facial femoral syndrome (FFS) is a rare congenital abnormality, also known as femoral hypoplasia-unusual facies syndrome, characterized by variable degrees of femoral hypoplasia, associated with specific facial features. Other organ malformations are sometimes present. Most cases are sporadic, but rare family observations suggest genetic origin. However, no chromosomal or genetic abnormalities have ever been incriminated. We conducted a comprehensive literature review and added three new unreported observations. Through these 92 cases, authors aimed to determine sonographic signs that should direct towards diagnosis, and discuss potential genetic etiology. Diagnosis was suspected prenatally in 27.2% of cases, and maternal diabetes was found in 42.4% of patients. When fetal karyotype was available, it was normal in 97.1% of cases, but genomic variations of unknown significance were discovered in all three cases in which array comparative genomic hybridization (CGH) techniques were applied. Femoral affection defining FFS was hypoplasia in 78.3% of cases, agenesis in 12%, and both in 9.8%. Affection was bilateral in 84.8% of cases. Retrognathia was present in 65.2% of cases, cleft lip and/or palate in 63%, and other organ malformations in 53.3%. Intellectual development was normal in 79.2% of cases. Better prenatal recognition of this pathology, notably frequently associated malformations, should lead to a more precise estimation of functional prognosis. It seems likely that today's tendency to systematically employ array-CGH and exome/genome sequencing methods to investigate malformative sequences will allow the identification of a causal genetic abnormality in the near future.

Efficacy and aesthetic outcomes for quilting sutures in the prevention of seroma after mastectomy.

Worldwide, mastectomy for breast cancer is one of the most frequently performed surgical procedures. As one of the main complications of mastectomy, seroma is associated with pain, infections and a prolonged hospital stay. We performed a prospective multicenter randomized trial to assess the efficacy and esthetic outcomes associated with quilting the skin flap. Eighty-seven patients were included. The proportion of patients with seroma on postoperative day 15 was significantly lower in the quilting group (12 out of 39 (30.8%)) than in a control group with conventional wound closure (21 out of 40 (52.5%); P = 0.05). The mean breast seroma volume was significantly lower in the quilting group (130.2 mL) than in the control group (236.8 mL; P = 0.02). There were no differences in the esthetic outcomes. The pain level on day 1 was similar in the quilting and control groups (mean visual analog scale score: 2.5 vs. 2.1, respectively; P = 0.3). Quilting the skin flap was associated with a lower prevalence of seroma and a lower seroma volume, and did not worsen the esthetic outcomes or pain levels. This technique is technically straightforward and should be offered to all patients scheduled for mastectomy.

Should isolated fetal ventriculomegaly measured below 12 mm be viewed as a variant of the norm? Results of a 5-year experience in a prenatal referral center.

BACKGROUND: Fetal ventriculomegaly (VM) is defined as lateral ventricles measured above 10 mm. Some authors believe VM <12 mm are variants of the norm and need not be addressed for referral ultrasound. METHODS: A retrospective continuous cohort study of 127 confirmed fetal VM was divided into three groups after initial referral sonographic assessment: isolated VM <12 mm (group A), isolated VM ≥12 mm (group B), and VM associated with other malformations (group C). We reviewed obstetric outcome and neonate evolution after 1 month with the aim of defining a pertinent prenatal workup. RESULTS: We reported fetal infections in all groups (p = .24) and chromosomal abnormalities only in group C (p = .41). Fetal magnetic resonance imaging (MRI) found initially undiagnosed brain abnormalities in groups B and C (12.5 and 14.1%, p < .05). Ratios of healthy children after 1 month stemming, respectively, from groups A, B, and C were 66.7, 62.5, and 20.2% (p < .05). CONCLUSIONS: Our results are in favor of a systematic referral ultrasound for every fetal VM, regardless of size, as soon as definition criterion is met. Additional paraclinical assessment (maternal serologic status for toxoplasmosis and cytomegalovirus, amniocentesis, fetal cerebral MRI) should be discussed depending on the situation.