Lethal skeletal dysplasia

Gravida, two patientpatients with one living child now at 31 weeks gestation presenting, presented with marked fetal anomalies in a previous scan, for a follow-up opinion.

Fetal skeletal dysplasia (camptomelic) coexists with a myriad of other congenital anomalies, as described. The maternal NLMP dating yields 31 weeks of maturity, which is in discordance with the sonographic biometrics, which show 28 weeks of gestation.

On clinical follow-up, the patient got admitted two weeks later for induction, ending up with two-day days of prolonged labour, and the fetus was born as a stillbirth and macerated, which could be worrisome for the lethality of the skeletal dysplasias and/or prolonged labour.

Case contributors:

• Dennis Odhiambo. A

• Caroline Ndaisi

A follow-up second opinion-opinion ultrasound reveals a single viable fetus in utero with a, cephalic presentation. Fetal cardiac and somatic activities are present with a regular heart rate of 133 bpm. Several in-utero anomalies are identified:

• relative foreshortening of the fetal lower limbs, suggesting camptomelia or phocomeliawith an FL/HC ratio = 0.12 (expected normal range = 3 below the mean standard deviation). FL/AC ratio = 0.15 (the expected normal range is between 0.20- and 0.247)

• bilateral flattening and external/lateral rotation of the feet, suggesting bilateral pes planus

• fused and inseparable fetal foot digits (on either side), which are not counted more than five digits on each side, suggesting oligosyndactyly on each foot

• clubbing of the fetal fingers and hands (hippocratic fingers and drumstick fingers), but with separated normal number digits; however, bowing of the right first phalangeal bone (camptomelia)

• hypoplastic right cardiac ventricular chamber with ventricular septal defect suggesting hypoplastic right heart syndrome

• polyhydramnios (single maximal vertical pocket depth = 10.74 cm)

• focal, unilocular, thin-walled anechoic cystic lesion (measuring 2.6 x 2.1 cm in size) visualised within the mid-umbilical cord, suggesting an allantoic/umbilical cord simple cyst

What is the expected normal FL/HC ratio during obstetrics ultrasound in 2nd trimesterstrimester and above?

When are the FL/HC and FL/AC ratios said to be abnormal that pointsand point towards severe skeletal dysplasias?

What is the medical terminology for clubbed fingers/hand/hands?

Drumstick fingers / Hippocratic/hippocratic fingers.

Polyhydramnios.