Metaphysis examination is recommended if fetal femur length measures below the fifth percentile, as normal aspect may rule out achondroplasia.

In a retrospective study of 22 neonates with congenital diaphragmatic hernia, fetal lung volume (FLV) measured by magnetic resonance imaging was associated with survival; the best FLV ratio cut-off to predict mortality was 30% of expected FLV. This study supports a correlation between FLV and the chances of survival. Despite advances in postnatal care, the death rate in patients with congenital diaphragmatic hernia (CDH) remains as high as 40-60%.1 Reliable outcome predictors are needed to provide families with accurate prognostic information, to optimise postnatal care, and to detect patients who may be candidates for future prenatal treatments.1 However, prenatal prediction of prognosis in patients with isolated CDH remains a challenge. 1Lung hypoplasia is a key prognostic factor.1 This can be estimated by fetal lung volume (FLV) measured by magnetic resonance imaging.2 However, the predictive value of FLV remains controversial. [3][4][5] We evaluated the potential for FLV to predict survival in neonates with CDH. STUDY DESIGN PatientsWe conducted a retrospective study of neonates with prenatal diagnosis of CDH between January 1996 and August 2004 and FLV measurement by magnetic resonance imaging. We excluded voluntarily terminated pregnancies and neonates without FLV measurement. Neonates were inborn and managed according to the same protocol through the years. Measurement of FLVMagnetic resonance imaging was performed at 30-32 weeks gestation, using a 1.5 T system. Lung boundaries were manually outlined on axial T2 weighted sequences. The lung surface area was multiplied by section thickness and corrected for gap to yield a partial FLV. The sum of partial FLV yielded the FLV. Predicted FLVs were estimated as FLV = 0.0033 6 g 2.86 , where g is gestational age.2 We then computed the ratio of observed over predicted FLV (hereafter designated ''FLV ratio'').The primary evaluation criterion was the association between postnatal mortality and FLV ratio. We also compared the prognostic value of FLV with that of gestational age at birth, gestational age at diagnosis of CDH, fetal sex, side of CDH, and liver herniation. Data are reported as mean (SD) unless specified otherwise. RESULTSTwenty two neonates were studied, and 10 survived. The FLV ratio was lower in non-survivors than in survivors (25.1 (12.8)% v 46.9 (11.6)% respectively; p,0.01). The area under the receiver operator characteristic curve of sensitivity and specificity of various ratio cut-offs for predicting postnatal death was 0. 92 (fig 1). The best cut-off was 30%, with a sensitivity of 0.83 (0.55-0.95) and a specificity of 1.00 (0.72-1.00). In our study, the FLV ratio was the only variable significantly associated with mortality (p,0.01) (table 1). DISCUSSIONIn this retrospective study of 22 neonates with CDH, the FLV ratio correlated with neonatal survival. The receiver operator characteristic curve identified 30% as the best FLV ratio cutoff for predicting survival.Prognostic interest of FLV in CDH has previously been evaluated in three studies.3-5...

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The authors present a series of six anal canal duplications (ACD), duplications of the alimentary tract located along the posterior side of the anal canal, with a perineal opening just behind the anus. Five asymptomatic duplications were diagnosed before the age of one year, by simple perineal inspection. A twelve-year-old girl presented with perineal and anal pains and diarrhoea. Fistulography revealed a tubular structure in five cases and a cystic structure in one case, behind the normal anal canal, in one case communicating with it. A presacral sacrococcygeal teratoma was found in two children and in one case it was visualised by preoperative US in an infant with a lumbosacral myelomeningocele. Surgical excision was performed by a perineal approach in 5 cases, by a combined sacral and perineal approach in the last case, because of the associated teratoma. Non-invasive preoperative investigations, consisting of a pelvic X-ray, US examination, barium enema and fistulography, are sufficient in most cases; MRI is reserved for special indications. Surgical treatment restores a normal perineal aspect, without sequelae, and avoids complications like those described in other types of digestive duplications: infection, ulceration, bleeding, malignant changes during later adult life. Associated anomalies are frequently described in the literature, especially presacral tumours (16%) and anorectal malformations (21%); they can influence the management, the surgical approach and the functional prognosis.

The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a very rare phenotype associating cutis laxa, facial dysmorphism, severe growth retardation, hyperostotic skeletal dysplasia, and intellectual disability. This disorder called Lenz–Majewski syndrome (LMS) is associated with gain of function mutations in PTDSS1, encoding an enzyme involved in phospholipid biosynthesis. This report illustrates that LMS is an unequivocal cutis laxa syndrome and expands the clinical and molecular spectrum of this group of disorders. In the neonatal period, brachydactyly and facial dysmorphism are two early distinctive signs, later followed by intellectual disability and hyperostotic skeletal dysplasia with severe dwarfism allowing differentiation of this condition from other cutis laxa phenotypes. Further studies are needed to understand the link between PTDSS1 and extra cellular matrix assembly.