American Journal of Medical Genetics 138A:268–271 (2005) Clinical Report Autosomal Recessive Oliver–McFarlane Syndrome: Retinitis Pigmentosa, Short Stature (GH deficiency), Trichomegaly, and Hair Anomalies or CPD syndrome (Chorioretinopathy-Pituitary Dysfunction) Motti Haimi 1 and Ruth Gershoni-Baruch 1,2 * 1 Department of Human Genetics, Rambam Medical Center, Technion-Israel Institute of Technology, Haifa, Israel 2 The Bruce and Ruth Rappoport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel We describe a brother and sister with retinitis pigmentosa (RP), growth failure, long eyelashes, and sparse hair. They were born to young healthy consanguineous parents and presented at birth with IUGR. Evolving pigmentary retinopathy was diagnosed at the age of 5 years. A similar condition (Oliver–McFarlane) syndrome was reported pre- viously. Our two sibs confirm the existence of this autosomal recessive syndrome. ß 2005 Wiley-Liss, Inc. KEY WORDS: hair anomalies; developmental delay; hypopituitarism; tricho- megaly; short stature; autosomal recessive inheritance; chorioreti- nopathy; retinitis pigmentosa INTRODUCTION We report on a brother and sister with growth disturbance, early pigmentary degeneration ofthe retina, trichomegaly, and hypotrichosis.They were born to Israeli-Arab Moslem young, healthy, and consanguineous parents. Both children had severe pre- and postnatal growth retardation, brittle and sparce hair, and long eyelashes. Retinitis pigmentosa (RP) was diagnosed at age 5 years and growth hormone (GH) deficiency at age 11 years. The association of long eyelashes,retinal degeneration,and mental and growth retardation was first reported in a sporadic boy by Oliver and McFarlane in 1965. Six additional sporadic cases bearing the eponym ‘‘Oliver– McFarlane syndrome’’ were described since then [Cant, 1967; Corby et al., 1971; Zaun et al., 1984; Patton et al., 1986; Haritoglou et al., 2003].All had pre- and postnatal growth retardation and two had GH deficiency. Additionally, two brothers with a similar combination of anomalies were re- ported [Mathieu et al., 1991]. In this study, we compare the phenotype of our patients to that of previously reported Oliver– McFarlane syndrome cases and further defines and confirm this autosomal recessive syndrome. CLINICAL REPORTS Patient 1 This currently 13-year-old boy is the second child, delivered at 41 weeks of gestation by cesarean section to consanguineous young and healthy parents (first cousins) of Moslem Arab origin. Birth weight was 1,560 g and OFC 29.5 cm (severely SGA). At delivery, he was cyanotic (Apgar score was 3 at 1 min) and he was ventilated for 1 hr. He developed thrombocytopenia and hyperbilirubinemia and was treated with phototherapy for 2 days and antibiotics for several days. Results of viral sero- logical tests were negative. At 27 days of age, he was discharged from hospital weighing 2,060 g. Brain CT scan and Brainstem Electric Response Audiometry (BERA) done at age 6 weeks were normal. At 7 months, he was referred for endocrinological evaluation because of micropenis. On examination, he weighed 5,500 g and measured 62 cm (below the 3rd centile). He had epicanthic folds, very long eyelashes, and very thin dry sparse hair (Fig. 1a,b). His motor and verbal development was age- appropriate. TSH and T4 were normal. Treatment with testo- sterone induced relative penis enlargement. At 12 years and 8 months, he was 135 cm tall (below the 3rd centile) and his penis measured 4 cm (10th centile) and testicles 2 ml (prepubertal).Cognitive functions were mildly delayed.GH deficiency was diagnosed and therapy with GH was initiated. As of 5 years, he developed night blindness and impairment of vision in daylight. Ophthalmologic evaluation showed RP. Electroretinogram and visual evoked potential disclosed retinal dysfunction and defective transport of visual signals to the optic cortex. Laboratory examinations showed normal copper and ceruloplasmin levels. Morphologic hair shaft ex- amination ruled out pili torti. Patient 2 This currently 11-year-old sister of Patient 1 is the third child, born at 37 weeks of gestation by cesarean section. Birth weight was 1,915 g and OFC 26.5 cm (severely SGA). In the neonatal period, she had unconjugated hyperbilirubinemia and was treated with phototherapy for 3 days. She had epicanthic folds, thin scarse hair, and very long eyelashes (Fig. 2a,b). Copper and ceruloplasmin levels were normal. Morphologic hair shaft examination ruled out pili torti. At the age of 1 year,she weighed 8.6 kg and measured 68 cm (below the 10th centile). At 11 years she was reevaluated for short stature [height 125 cm (< the 3rd centile cm), weight 35 kg (50th centile)]. Low GH levels prompted GH therapy. At 5.5 years, she developed visualdisturbances (especially at night), eventually attributed to RP. Electrophysiologic studies showed decreased macular function on both eyes. Nerve *Correspondence to: Ruth Gershoni-Baruch, M.D., Department of Human Genetics, Rambam Medical Center, P.O.B. 9602, 31096 Haifa, Israel. E-mail: rgershoni@rambam.health.gov.il Received 3 May 2005; Accepted 14 July 2005 DOI 10.1002/ajmg.a.30953 ß 2005 Wiley-Liss, Inc.