A medical condition characterized by the mnemonic growth retardation, aged facial appearance, normal development, decreased subcutaneous fat, and inherited as an autosomal dominant inheritance. The clinical presentation is associated with characteristic facial appearance that includes triangular facies, prominent forehead, thin or absent scalp hair, deep-set eyes, midfacial hypoplasia, prominent nasal septum with hypoplasia of the alae nasi, prominent ears, and thin lips.
Growth Retardation, Aged Facies, Normal Development, Decreased Subcutaneous Fat Syndrome.
Marion et al (1989) observed seven patients who presented a prematurely aged facial appearance and the following features: intrauterine growth retardation with postnatal growth delay, normal mental development, and decreased subcutaneous fat.
Incidence and genetic inheritance
Seven cases have been described worldwide. An autosomal dominant inheritance has been suggested.
Patients present with intrauterine growth retardation and postnatal growth delay with normal mental development. There is decreased subcutaneous fat and thin or absent scalp hair. Main features involve the face, which seems prematurely aged with a triangular facies, prominent forehead, deep-set eyes, midfacial hypoplasia, prominent nasal septum, hypoplastic alar nasae, prominent ears, and thin lips.
Tracheal intubation and face-mask ventilation may be difficult because of anatomical abnormalities. Nasal intubation should be avoided secondary to small nares.
et al: The GRANDDAD syndrome: A disorder combining growth delay, “aged facies,” normal development, and deficiency of subcutaneous fat. Am J Hum Genet 45(suppl):A53, –1989.