Girl is suffering from:
Correct Answer: Treacher Collins syndrome
Description: Clinical Features. Wide variations in the clinical expression of this syndrome are recognized, ranging from a complete, typical form manifesting all abnormalities listed below through incomplete, abortive, and atypical forms. The important clinical manifestations of the disease are:
Antimongoloid palpebral fissures with a coloboma of the outer portion of the lower lids, and deficiency of the eye-lashes (and sometimes the upper lids).
Hypoplasia of the facial bones, especially of the malar bones and mandible.
Malformation of the external ear, and occasionally of the middle and internal ears.
Macrostomia, high palate (sometimes cleft) and abnormal position and malocclusion of the teeth.
Blind fistulas between the angles of the ears and the angles of the mouth.
Atypical hair growth in the form of a tongue-shaped process of the hairline extending towards the cheeks.
Other anomalies such as facial clefts and skeletal deformities.
The characteristic faces of the patients have often been described as being bird like or fish like in nature.
The syndrome is thought to result from a retardation or failure of differentiation of maxillary mesoderm at and after the 50 mm stage of the embryo. The fact that the teeth of the upper jaw are usually unaffected, and ordinarily are present by the sixth week, is further evidence of retardation or arrest of differentiation at or after the second month of fetal life. The first visceral arch of the visceral mesoderm also advances secondarily to form the mandible, and again retardation occurs on the same basis.
A disease that has sometimes been confused with mandibulofacial dysostosis, because of certain clinical features in common is hemifacial microsomia (also known as oculoauriculovertebral dysplasia or Goldenhar syndrome). However, hemifacial microsomia is sporadic in the vast majority of cases, although familial cases have been reported. In addition as the name implies, this disease is unilateral and has been suggested to be related to an abnormality in the vascular supply of the head. It has been discussed in detail by Gorlin and his associates.
Ref: Shafer’s Ed 7th pg 721
Category:
Pathology
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