ESPE Abstracts

Introduction: Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder defined by craniofacial, ectodermal and skeletal involvement.

Materials and Methods: She is a girl aged 07 years, the second in a sibling of 4 from a non-consanguineous couple. Physiological antecedents, full term birth with a low birth weight of 02 Kg, artificial breastfeeding from birth, good pshycomotor development with a staturoponderal delay. Personal pathological history: congenital bilateral hip dislocation diagnosed at 07 months and surgically treated at 05 years.

Clinical examination:

Facial dysmorphia:

ω Bulbous, broad nose with very wide columella, sparse eyebrows scattered laterally, long philtrum and thin upper lip with large, protruding ears.

ω Fine, sparse, brittle, light-coloured hair, fine, fragile, dystrophic nails on feet and hands.

ω Dental anomalies such as supernumerary teeth, malposition with dental malocclusions

ω Typical bone anomalies

⌉ Statural growth retardation: Height -3DS

⌉ Brachydactyly, with cone-shaped epiphyses in the middle phalanges (P2) on X-ray of the hands.

⌉ Multiple hard, painless nodosities on the wrist and inner surface of the upper third of the left arm.

Paraclinical investigations:

ω Biology: IGF1 level low at 42.8 ng/ml

ω Karyotype: 46, XX

ω Radiology: Cerebral MRI: hypoplastic appearance of olfactory bulbs and olfactory sulci

Discussion: TRPS is classified into three types according to clinical phenotype:

ω Type I describes the classic picture with a target size generally less than -2 DS, morphological features that may remain discreet and variable functional discomfort.

ω Type II (Langer-Giedion syndrome) combines a TRPS type I picture, multiple exostoses which may appear from the first years of life and inconstant impairment of higher functions ranging from delayed acquisition to mild to moderate intellectual disability.

ω Type III defines a severe form with more pronounced skeletal damage (size and deformities) and sometimes functional impotence resulting from multiple bone deteriorations and malformations. Patients with type III TRPS generally have normal intelligence and no exostoses.

In our case, a standard X-ray of the thorax and upper limbs showed multiple images of exostosis in the medial aspect of the proximal epiphysis of the left humerus and the lower extremity of both bones of the left forearm.

It is therefore probably a type II trichorhinophalangeal syndrome or Langer-Giedion syndrome.

DIAGNOSTIC CONFIRMATION is genetic but not done in our patient.