Early childhood growth failures are associated with significant diagnostic and therapeutic implications. Testing for a panel of genes associated with a poor growth has identified a diagnosis of 3M syndrome. Index case was born at 36 weeks gestation with a birth weight of 1.88 kg (>2nd centile) and length 40 cm (<0.4 the centile) with head circumference 45 cm on 50th centile. Her initial assessment noted severe intrauterine growth retardation pattern. She had normal Skeletal survey and Achondroplasia gene test and Russel Silver test was negative Both parents are healthy, mid parental height on 25 the centile and were first cousins. Mother had previous 3 miscarriages and has 8-year brother with normal height. There is strong family history of short family members on both side of the family. She has Congenital hypothyroidism with normal thyroid scan and most likely transient hypothyroidism. She maintained her weight on 0.4th centile (−3SDS) and height far below 0.4th centile (−4SDS). She has seen Dietitians who feels that she has appropriate calory intake. She has started walking at 14 months of age. She continues her follow up under Endocrinology and was seen by Clinical Geneticist and Orthopedics. Recently we commenced her on growth hormone therapy as per SGA license at 2 ½ years of age and under review on the response to growth hormone treatment. She was found to have an alteration in both copies of her CCDC8 gene. This is associated with a diagnosis of 3 M syndrome type 3. 3 M syndrome has many similarities with RussellSilver syndrome with growth difficulties and normal head circumference. In addition to short stature, other features that can be seen in individuals with 3 M syndrome include prominent heels, hip dysplasia and in some individuals short neck or short chest. This diagnosis is not usually associated with developmental delay or learning difficulties. Integration of genetic sequencing in cases of early childhood growth failure is warranted to aid diagnosis. Early diagnosis is essential so that appropriate support and genetic counselling can be given.
08 Nov 2023 - 10 Nov 2023