[source]
pmid = PMID:30249733
title = Novel mutation in the CHST14 gene causing musculocontractural type of Ehlers-Danlos syndrome
[diagnosis]
disease_id = OMIM:601776
disease_label = Ehlers-Danlos syndrome, musculocontractural type 1
[text]
A 3-year-old boy, born out of a third-degree consanguineous marriage was referred to us by the paediatric surgeons on
suspicion of an underlying genetic disorder. He was being followed by them for bilateral hydronephrosis with bilateral
pelviureteric junction obstruction (right >left). The child was born by normal vaginal delivery with a birth weight of 2.7kg.
The length and head circumference at birth were not recorded. At birth, he was noted to have bilateral clubfeet.
The child started sitting at around 7–8 months of age however had difficulty in standing and walking.
At the current age of 3 years also, he is able to stand with support only for few minutes.
In the other sectors of development like cognition and language, the child showed appropriate gain and currently is able
to tell short stories and enjoys playing with family members. Anthropometry at the age of 3 years showed weight to be 12.6kg,
length to be 88cm and head circumference of 47cm at 3 years of age. For the initial 1–1.5 years of life,
the parents were mainly concerned about clubfeet in their child and were taking opinion of local practitioners for the same.
During an episode of acute febrile illness, he was coincidently diagnosed to have hydronephrosis and in view of cryptorchidism
noted by the examining physician was referred to our centre for evaluation and management.
On examination, the child had facial dysmorphism in the form of synophrys, hypertelorism, down slanting palpebral fissures,
low set ears, thin upper lip, high arched palate and prominent nasolabial folds (figures 1A and 2A–C).
He had tapering fingers with bilaterally thin and adducted thumbs (figure 1B). The deep palmer creases were absent and
only a few fine creases were seen. Feet showed bilateral talipes equinovarus deformity (figure 1C).
The skin was hyperelastic and hypermobility of fingers, elbow and knee joints was noted. Generalised hypotonia was present.
The child also had bilateral cryptorchidism. No bruises or haematomas were seen and even on repeated asking the parents denied
any bleeding tendency.