Gorlin et al. (2001) referred to a 5-year-old boy examined by Keppen and Lubinsky who had severe developmental delay and a distinct facial appearance with tightly adherent skin reminiscent of severe lipodystrophy. All growth parameters were low; brain ... Gorlin et al. (2001) referred to a 5-year-old boy examined by Keppen and Lubinsky who had severe developmental delay and a distinct facial appearance with tightly adherent skin reminiscent of severe lipodystrophy. All growth parameters were low; brain MRI was normal. Beare-Stevenson cutis gyrata syndrome (BSTVS; 123790) was excluded. De Brasi et al. (2003) reported an 8-year-old boy with generalized lipodystrophy, peculiar aged facial appearance with tight, thin skin overlying the facial bones and small pinched nose, and almost complete lack of psychomotor development. They noted the similarities to the patient reported by Gorlin et al. (2001), and suggested that this is a novel progeroid syndrome characterized by normal growth parameters at birth, very poor postnatal growth, failure to thrive, and developmental delay. Basel-Vanagaite et al. (2009) reported a third boy with features consistent with Keppen-Lubinsky syndrome. He was born of unrelated Jewish parents of Yemenite origin and had a normal birth weight. He showed severe developmental delay with behavioral anomalies, including self-mutilation and chewing of the tongue and lips. He also had episodes of opisthotonic posturing and febrile seizures. Physical examination at age 6 years, 9 months showed poor growth and decreased facial subcutaneous fat with tightly adherent facial skin, large prominent eyes, pinched nose with hypoplastic alae, short philtrum, tented upper lip, open mouth, and high-arched palate. Subcutaneous fat on the rest of the body was normal. He was very jittery and responded to minimal external stimulation with body arching. Hypertonia and hyperreflexia were also present. Laboratory investigations showed no abnormalities.