PubMed · 11449928
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J Laurence. 2001. Facial wasting.. https://pubmed.ncbi.nlm.nih.gov/11449928/
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Few reports describe incidental prenatal diagnosis of sporadic Larsen syndrome by ultrasound, but none of these discuss coincidental oligohydramnios or an association with fetal growth restriction. A 28-year-old woman had prolonged rupture of membranes causing marked oligohydramnios at 32 weeks gestation in her first pregnancy. Labor was induced by vaginal prostaglandins and oxytocin infusion after dexamethasone administration because of concern about placental abruption. She delivered vaginally a live female infant weighing 1960 g (< 10th percentile) with multiple skeletal malformations and characteristic facies originally suspected as positional. Newborn x-rays, however, established the diagnosis of Larsen syndrome with bilateral dislocations of the hips, knees (genu recurvatum), and ankles (club foot). The neonatal karyotype was 46,XX. Parental examination and family history were unremarkable. The newborn did well with bilateral lower extremities cast. Postnatal diagnosis of Larsen syndrome should be suspected in neonates with multiple skeletal abnormalities following oligohydramnios.
The urofacial (Ochoa) syndrome (UFS) is a very rare autosomal recessive disorder characterized by abnormal facial expression and urinary abnormalities. Patients with this syndrome have urinary tract infection, hydronephrosis, hydroureter and voiding dysfunctions resulting from neurogenic bladder, together with a peculiar inverted facial expression, mainly when smiling or crying. This syndrome has been so far observed in Colombia, USA, France and Spain. We report the first case of Ochoa syndrome in the central European population.
Genitopatellar syndrome is a recently described disorder with characteristic facies, genital anomalies, absent patella, flexion contractures, microcephaly, renal anomalies, and mental retardation. The presence of affected siblings in two of the original families suggests autosomal recessive inheritance. We report a new patient that exhibits all of these cardinal features and is also the second case to have additional, more severe findings including a congenital heart defect, anal anomalies, and features of an ectodermal dysplasia, thus expanding the phenotype to include these manifestations.