Abstract

MAGALHAES, Sara; RODRIGUES, Marlene  and  SA, Maria João Nabais. More than failure to thrive: a case report. Rev Port Med Geral Fam [online]. 2017, vol.33, n.1, pp.63-69. ISSN 2182-5173.

Introduction: Failure to thrive is a common reason for referral of children for pediatric consultation. There are many causes and the correct diagnosis is essential for the treatment and prevention of secondary complications. Although genetic diseases as a cause of failure to thrive are rare, awareness of this possibility is necessary. Case report: A 2-year-old boy, with history of intrauterine growth retardation and feeding difficulties from the neonatal period, was seen in a general practice consultation due to failure to thrive and global psychomotor developmental delay. In addition to these medical problems, the child had craniofacial dysmorphism, a stellate iris pattern, a hoarse voice, lax joints, and an overfriendly and talkative personality. The diagnosis of Williams syndrome was proposed. The patient was referred to a medical genetics consultation and the diagnosis was confirmed by demonstrating a chromosomal microdeletion at 7q11.23. The child was referred for appropriate follow-up of the child and his young parents received genetic counselling. Comment: The presence of psychomotor developmental delay and multiple physical anomalies should raise the possibility of a genetic syndrome as a cause of failure to thrive. Family physicians should have basic knowledge of genetic disorders to allow the recognition of clinical signs suggestive of inborn genetic diseases in order to enable early diagnosis and referral of the patient and the family for medical genetic consultation.

Keywords : Williams syndrome; Failure to thrive; Inborn genetic diseases.

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