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Carney Complex (CNC) is a rare syndrome characterised by skin pigmentation, endocrine over activity and myxomas, with the median age of detection being 20 years. We present a case of CNC diagnosed in infancy after being noted to have multiple lentigines over his face, abdomen, back and thighs at birth. We consider the differential diagnoses of similar cutaneous presentations in the well neonate and review the prognosis and suggested surveillance of patients with CNC.

A very rare syndrome, 3q26.33-3q27. 2 microdeletion, has only been described in seven case reports previously, all of which highlight genotypic and phenotypic variations of the presentations identified in school-aged and adolescent children. The patients in these cases had varying sized deletions but overlapping manifestations. Hallmarks of the deletion include intrauterine growth restriction (IUGR), failure to thrive/feeding difficulty, dysmorphic facial features, delayed dentition, pes planus, intellectual/developmental delay, hypotonia and recurrent infections. This case report aims to document the presentation of 3q26.33-3q27.2 microdeletion in infancy for the first time in the literature. Through early recognition of specific genetic causes for IUGR, such as this microdeletion, we can better anticipate and prepare for the patient’s needs in the neonatal period and in the future.

Cleidocranial dysplasia (CCD) is a rare syndrome with an estimated prevalence of 1:1 000 000.[1 2][1] It has an autosomal dominant transmission with complete penetrance and variable expression, equally affecting men and women.[3][2] This skeletal disorder is caused by a mutation in the RUNX2 (CBFA1

A Moroccan 19-year-old patient, from a non-consanguineous marriage, with a history of diabetes mellitus since the age of 8 years, presented at the age of 14 year with hypertrichosis and hyperpigmentation on the upper inner thighs, with involvement of the genitalia, trunk and limbs. The physical