METHODS Patients The series included 14 children (seven boys and seven girls) ranging in age from 14 months to 17 years. All patients were regularly followed at the Department of Medical Genetics of the Necker-Enfants Malades Hospital, Paris. They were diagnosed with CdLS on the basis of four major criteria:(i) pre-and/or postnatal growth retardation,(ii) microcephaly,(iii) moderate to profound mental retardation with abnormal speech development, ranging from minimal speech to complete absence of speech, and (iv) facial dysmorphic features including arched eyebrows with synophrys, short nose with anteverted nares, long philtrum, and thin upper lip. In addition, at least two of the following four clinical signs or symptoms were required for diagnosis, namely:(i) behavioural problems including self injurious behaviour, hyperactivity, repetitive and autistic behaviour,(ii) feeding problems and/or gastroesophageal reflux,(iii) major or minor anomalies of the upper limbs, and (iv) skin anomalies, particularly hirsutism and cutis marmorata. Table 1 and fig 1 summarise our clinical findings in the 14 patients included in the study.