Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome

This case report describes the successful use of low dose quetiapine in the treatment of agitation in a patient with Treacher–Collins syndrome (TCS) and suspected autistic spectrum disorder (ASD). Results from this case report found better efficacy in controlling symptoms of agitation in ASD utilizing lower doses of quetiapine. TCS is a genetic disorder that is characterized by a mandibulofacial dysostosis but is not associated with developmental delay, nor is it associated with a high risk of co-morbid autism, and to our knowledge, there are no previous reports of a co-occurrence of TCS and ASD in the extant literature. There are reports of mandibulofacial dysostosis associated with co-morbid developmental delay that are similar but distinct from TCS, however these reports do not comment on the treatment of agitation in this patient population. The results described in this case report demonstrate a reduction of agitation with low dose quetiapine, and offers support for the reconceptualization of agitation in ASD as a primary affective dysregulation which is also in line with evidence from the extant literature regarding the neurobiologic basis of aggression.Disclosure of interestThe authors have not supplied their declaration of competing interest.

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Article Commentary: Neurocranial Morphology in Mandibulofacial Dysostosis (Treacher Collins Syndrome)

The Cleft Palate-Craniofacial Journal ◽

10.1597/1545-1569_1993_030_0512_nmimdt_2.3.co_2 ◽

1993 ◽

Vol 30 (5) ◽

pp. 512-512

Author(s):

Scott P. Bartlett

Keyword(s):

Treacher Collins Syndrome ◽

Mandibulofacial Dysostosis

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Cytogenetic and Clinical Assessment of a Family with Treacher Collins Syndrome

Case Reports in Medicine ◽

10.1155/2011/708450 ◽

2011 ◽

Vol 2011 ◽

pp. 1-5

Author(s):

Manoj Kumar ◽

Rakesh Kumar ◽

Mukesh Tanwar ◽

Supriyo Ghose ◽

Jasbir Kaur ◽

...

Keyword(s):

Physical Examination ◽

Medical Records ◽

Autosomal Dominant ◽

Common Type ◽

Interstitial Deletion ◽

Treacher Collins Syndrome ◽

Autosomal Dominant Disorder ◽

Severe Manifestation ◽

Numerical Chromosomal Abnormality ◽

Mandibulofacial Dysostosis

Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder characterized by craniofacial deformities. It is the most common type of mandibulofacial dysostosis (MFD). The objective of this study is to do cytogenetic analysis of a TCS family. Physical examination and all available medical records were reviewed. 50 GTG-banded metaphases were analysed to detect any structural or numerical chromosomal abnormality. Downward slanting of palpebral fissures, hypoplasia of zygomatic arch complex, and hypoplasia of mandible were present in all. Cytogenetic findings show interstitial deletion in chromosomes 5(q32-q33) and 3(q23–q25). We report four members of three generations of a family having TCS in a unique way that the deletion has been found in 3q and 5q which has not been reported. Mosaicism of deletion on 5q was detected in all affected members whereas 3q deletion was found only in one member (II.2). This finding may represent a more severe manifestation of the TCS. Thus the evaluation and counselling of the TCS patients should be undertaken with caution.

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Treacher Collins syndrome with choanal atresia: one way to handle the airway

Pediatric Anesthesia ◽

10.1111/j.1460-9592.2004.01376.x ◽

2004 ◽

Vol 14 (8) ◽

pp. 700-701 ◽

Cited By ~ 10

Author(s):

Eva Nilsson ◽

Leif Ingvarsson ◽

Erik Isern

Keyword(s):

Choanal Atresia ◽

Treacher Collins Syndrome

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Prenatal ultrasonic diagnosis of mandibulofacial dysostosis (treacher collins syndrome)

Journal of Clinical Ultrasound ◽

10.1002/jcu.1870190213 ◽

1991 ◽

Vol 19 (2) ◽

pp. 124-127 ◽

Cited By ~ 23

Author(s):

Israel Meizner ◽

Rivka Carmi ◽

Miriam Katz

Keyword(s):

Treacher Collins Syndrome ◽

Ultrasonic Diagnosis ◽

Mandibulofacial Dysostosis

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Treacher Collins Syndrome (Mandibulofacial Dysostosis)

Otology & Neurotology ◽

10.1097/00129492-200211000-00034 ◽

2002 ◽

Vol 23 (6) ◽

pp. 1005 ◽

Cited By ~ 1

Author(s):

Miquel A. Crovetto ◽

Fred H. Linthicum

Keyword(s):

Treacher Collins Syndrome ◽

Mandibulofacial Dysostosis

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Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India

The Cleft Palate-Craniofacial Journal ◽

10.1177/10556656211050006 ◽

2021 ◽

pp. 105566562110500

Author(s):

Rathika D. Shenoy ◽

Vikram Shetty ◽

Annelies Dheedene ◽

Björn Menten ◽

Dechamma Pandyanda Nanjappa ◽

...

Keyword(s):

Outcome Measure ◽

Collaborative Study ◽

Case Series ◽

Lower Eyelid ◽

Treacher Collins Syndrome ◽

Molecular Heterogeneity ◽

Term Care ◽

Aural Atresia ◽

Pathogenic Variants ◽

Mandibulofacial Dysostosis

Objective Facial dysostosis is a group of rare craniofacial congenital disabilities requiring multidisciplinary long-term care. This report presents the phenotypic and genotypic information from South India. Design The study is a case series. Setting This was an international collaborative study involving a tertiary craniofacial clinic and medical genetics unit. Patients, Participants The participants were 9 families with 17 affected individuals of facial dysostosis. Intervention Exome analysis focused on known genes associated with acrofacial and mandibulofacial syndromes. Main Outcome Measure The outcome measure was to report phenotyptic and genetic heterogeneity in affected individuals. Results A Tessier cleft was seen in 7 (41%), lower eyelid coloboma in 12 (65%), ear anomalies in 10 (59%), uniolateral or bilateral aural atresia in 4 (24%), and deafness in 6 (35%). The facial gestalt of Treacher Collins syndrome (TCS) showed extensive phenotypic variations. Pathogenic variants in TCOF1 (Treacher Collins syndrome) were seen in six families, POLR1A (acrofacial dysostosis, Cincinnati type) and EFTUD2 (mandibulofacial dysostosis with microcephaly) in one each. One family (11.1%) had no detectable variation. Five out of six probands with Treacher Collins syndrome had other affected family members (83.3%), including a non-penetrant mother, identified after sequencing. Conclusion Our report illustrates the molecular heterogeneity of mandibulofacial dysostosis in India.

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