3-M syndrome: a case report | [Pakistan Paediatric Journal • 2023]

Author(s):

1. FIZZA AGHA: FM PG1- Trinity Health, Muskegon, MI (USA)

2. JAWWAD MASOOD AHMAD: Children's Hospital, Core Well Health, Grand Rapids MI (USA).

3. TARIFFA ILYAS: Department of Pediatrics Rashid Latif Medical College Lahore, Pakistan

4. Urwa Khalil: Department of Pediatrics Rashid Latif Medical College Lahore, Pakistan

5. Yumna Ameer: Department of Pediatrics Rashid Latif Medical College Lahore, Pakistan

6. Tahir Masood Ahmad: Department of Pediatrics Rashid Latif Medical College Lahore, Pakistan

Abstract:

3-M syndrome is an extremely rare disorder which is inherited in an autosomal recessive manner. It has characteristic features of growth retardation, facial dysmorphism and skeletal deformities. It is distinct from other types of dwarfism by its facial features, proportionate arms and legs with typical slender bones. Mutations in genes CUL7, OBSL1, and CCDC8 are associated with this disorder. Diagnosis is mainly clinical and genetic testing is confirmatory. A ten month-old girl presented with poor growth and development. She had low birth weight with less than normal length. She however achieved her developmental milestones normally. Initially diagnoses of hypochondroplasia or other skeletal dysplasias were considered but the skeletal survey was not consistent with these conditions. Genetic testing confirmed that the patient was homozygous for CUL7 gene and hence the diagnosis of 3-M syndrome was made.

Page(s): 340-344

DOI: DOI not available

Published: Journal: Pakistan Paediatric Journal, Volume: 47, Issue: 3, Year: 2023

Keywords:

Short stature , prenatal and postnatal growth retardation

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