Objective: Renal tubular dysgenesis (RTD) is a lethal, irreversible renal abnormality presenting as severe oligohydramnios in mid second trimester. Cases can have autosomal recessive inheritance or are acquired. We describe prenatal findings in 3 cases detected by us and review the literature for diagnostic features. Methods: IRB approved review of records for histologically proven RTD cases. Literature review. Results: We managed three fetuses with proven RTD: 2 sibs and 1 sporadic. Pregnancies were otherwise unremarkable. All were singleton. There was no history of hypoxia or teratogen exposure including angiotensin converting enzyme (ACE) inhibitors. All had normal ultrasound examinations at 17–25 weeks but developed severe second-trimester oligohydramnios (23–26 wks). At onset, kidneys appeared normal or showed slight echogenic enlargement. All had cranial bone hypoplasia and wide sutures (hypocalvaria) confirmed by postnatal X-ray. One had echogenic bowel confirmed on X-ray and autopsy. Literature review revealed about 60 similar cases since 1983. Oligohydramnios was detected at 19 to 34 wk gestation. Hypocalvaria was recognized whenever sought. Most had findings of Potter sequence. Additional features included: previously affected sib, hypoxic and twinning complications and maternal hypertension treated with ACE inhibitors. All liveborns had profound renal failure and died at or shortly after birth. Histologically, the kidneys show characteristic absence of proximal convoluted tubules. Conclusions: Lethal fetal RTD may be suspected in fetuses with second-trimester onset of unexplained severe oligohydramnios who show normal size kidneys and hypocalvaria. Supporting features include history of an affected sib, and conditions which decrease renal blood flow such as fetal hypoxia, twinning complications, or maternal ACE inhibitor exposure. The recent delineation of associated genes may enable early prenatal diagnosis in at risk couples.

Most reports of the sonographic detection of osteogenesis imperfecta (OI) describe the perinatally lethal forms (IIa and c) where skull hypomineralisation, short, crumpled long bones and a small chest with beaded ribs present early in pregnancy. OI types IIB, III and IV may be compatible with survival into childhood, but they are usually associated with serious morbidity related to recurrent fractures. These types can present before birth with subtle, but often progressive signs. The object of this study was to define the prenatal findings associated with these types of OI in order to inform accurate antenatal diagnosis and thus prenatal counselling. All cases of OI IIB, III and IV seen prenatally at UCLH and Watford General Hospital were ascertained by searching the departmental databases. The prenatal sonographic findings were ascertained and postnatal radiographs reviewed by CMH to confirm the diagnosis. Only cases with detailed sonographic findings and postnatal radiographic confirmation of the diagnosis were included. Twelve cases were identified, 3 type IIB, 7 type III and 2 type III/IV. One case of IIB was excluded as the radiographs were missing. The sonographic findings are summarised in the table and graphs of fetal limb length have been constructed. OI type III and IV can be difficult to distinguish. Sonographic signs can be subtle with long bone length often preserved until mid to late second trimester or beyond. Bowing is usually restricted to the femora. Type IIB has a more obvious presentation with all limbs being affected to some degree. Accurate prenatal sonographic diagnosis of these types of OI is challenging, but these data should aid prenatal diagnosis.

Increased nuchal translucency thickness (NT) is an established sonographic marker of fetal chromosomal abnormality. Several structural fetal defects and genetic syndromes including a range of skeletal dysplasias have been reported in association with increased NT. We report the first case of fetal Ellis-Van Creveld syndrome presenting as raised fetal NT at 13 weeks' gestation. Ultrasonography at 18 weeks' gestation demonstrated a narrow thorax, marked shortening of the long bones with bowed femora and hexadactyly of hands and feet. Pregnancy was terminated at 23 weeks' gestation. The postmortem radiological examination revealed short and bowed long bones with rounded metaphyses, postaxial polydactyly of hands and feet, short ribs and narrow thorax. The acetabular roofs were horizontal with medial and lateral spurs. This case adds a further type of severe skeletal dysplasia to the list of genetic syndromes which may present as increased fetal NT in the late first trimester.

We present a boy with severe intrauterine growth retardation, relative macrocephaly, an aged appearance to the face, hydrocephaly and distinctive skeletal anomalies. Autosomal recessive inheritance is likely in view of the parental consanguinity.

Two brothers whose parents are second cousins have short stature, femoral epiphyseal dysplasia, umbilical and inguinal herniae, sensorineural deafness and developmental delay. Both are facially dysmorphic in that the face is triangular in shape with a pointed chin when viewed from the front.

We describe the prenatal diagnosis and post mortem findings, including fetal radiographs and bone histology, in a fetus with oto-palato-digital syndrome type II. The differential diagnosis and recurrence risks are discussed.

We report two siblings with bowed tibia, hypoplastic thumbs, multiple fractures, a distinctive facial phenotype and developmental delay. These children share some features with other cases reported in the literature but we consider that they represent a new syndrome.

Bilateral microtia, absent patellae, short stature, poor weight gain, and characteristic facial features are described in two female sibs. Other skeletal anomalies included complete habitual dislocation of the elbow, slender ribs and long bones, abnormal modelling of the glenoid fossae with hooked clavicles, and clinodactyly. Bone age was significantly delayed and there was flattening of the epiphyses. This unusual combination of features has many similarities to the syndrome described by Hurst et al.