Intended for healthcare professionals

Endgames Spot Diagnosis

A tired young man with a dysmorphic thumb

BMJ 2018; 363 doi: https://doi.org/10.1136/bmj.k4528 (Published 22 November 2018) Cite this as: BMJ 2018;363:k4528
  1. Grzegorz Nalepa, associate professor of paediatric haematology oncology, biochemistry, and medical and molecular genetics
  1. Indiana University School of Medicine and Riley Hospital for Children; Indianapolis, IND, USA
  1. Correspondence to G Nalepa gnalepa{at}iu.edu

A 23 year old man with short stature, congenital malformation of the left thumb and both ears, and a single kidney presented with back pain, shortness of breath, fatigue, and easy bruising that had developed over several months. Physical examination revealed hepatosplenomegaly.

His brother had died in early childhood, more than 20 years ago. The patient’s parents reported that his brother, “had similar but worse congenital malformations, including bad kidney problems.”

Full blood count showed pancytopaenia, which prompted further laboratory investigations (table 1).

View this table:
Table 1

Initial laboratory investigations

Radiography of the patient’s left hand (fig 1) revealed a single fused phalanx, anomalous carpal bones, and a hypoplastic radial styloid.

Fig 1

(A) Dysmorphic left thumb. …

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