A patient presents with a bird-like facial appearance, micrognathia, cleft palate, and glossoptosisThese clinical features are characteristic of which syndrome?

Question

Four friends P, Q, R, and S were discussing the examples of genetic disorders. The examples they quoted were as follows:
P. Colour blindness and Malaria
Q. Albinism and Cholera
R. Haemophilia and Colour blindness
S. Haemophilia and Albinism
Who gave the correct examples?

Answer 1

The question requires identifying which syndrome is characterized by a bird-like facial appearance, micrognathia, cleft palate, and glossoptosis. Let's evaluate each option and determine the correct answer.

Treacher Collins syndrome: This syndrome is characterized by craniofacial deformities, such as underdeveloped facial bones, notably the cheekbones, and a very small jaw and chin (micrognathia). However, it is not specifically associated with a bird-like facial appearance, cleft palate, and glossoptosis. Therefore, this is not the correct answer.
Pierre Robin sequence: This condition is characterized by a set of abnormalities affecting the head and face, which include micrognathia (small jaw), glossoptosis (downward displacement or retraction of the tongue), and a cleft palate. The facial structure in Pierre Robin sequence can give a bird-like appearance. Thus, this option matches the symptoms described and is the correct answer.
Parry-Romberg syndrome: This rare disorder involves the progressive shrinking and degeneration of the tissues beneath the skin, usually on one side of the face (facial atrophy). It does not typically include micrognathia, a cleft palate, or glossoptosis. Hence, this is not the correct choice.
Melkersson-Rosenthal syndrome: This is a neurological disorder characterized by recurrent facial paralysis, swelling of the face and lips, and the development of folds and furrows in the tongue. It does not involve the specific facial features like a bird-like appearance or cleft palate described in the question. As such, this is not the correct answer.

Therefore, based on the clinical features provided, the correct answer is Pierre Robin sequence.

Answer 2

The question requires identifying which syndrome is characterized by a bird-like facial appearance, micrognathia, cleft palate, and glossoptosis. Let's evaluate each option and determine the correct answer.

Treacher Collins syndrome: This syndrome is characterized by craniofacial deformities, such as underdeveloped facial bones, notably the cheekbones, and a very small jaw and chin (micrognathia). However, it is not specifically associated with a bird-like facial appearance, cleft palate, and glossoptosis. Therefore, this is not the correct answer.
Pierre Robin sequence: This condition is characterized by a set of abnormalities affecting the head and face, which include micrognathia (small jaw), glossoptosis (downward displacement or retraction of the tongue), and a cleft palate. The facial structure in Pierre Robin sequence can give a bird-like appearance. Thus, this option matches the symptoms described and is the correct answer.
Parry-Romberg syndrome: This rare disorder involves the progressive shrinking and degeneration of the tissues beneath the skin, usually on one side of the face (facial atrophy). It does not typically include micrognathia, a cleft palate, or glossoptosis. Hence, this is not the correct choice.
Melkersson-Rosenthal syndrome: This is a neurological disorder characterized by recurrent facial paralysis, swelling of the face and lips, and the development of folds and furrows in the tongue. It does not involve the specific facial features like a bird-like appearance or cleft palate described in the question. As such, this is not the correct answer.

Therefore, based on the clinical features provided, the correct answer is Pierre Robin sequence.

A patient presents with a bird-like facial appearance, micrognathia, cleft palate, and glossoptosisThese clinical features are characteristic of which syndrome?

Show Hint

The Correct Option is B

Solution and Explanation

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