Autosomal recessive Oliver–McFarlane syndrome: Retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy‐pituitary dysfunction)

Abstract

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 previously. Our two sibs confirm the existence of this autosomal recessive syndrome.

Oliver–McFarlane syndrome (chorioretinopathy–pituitary dysfunction) with prominent early pituitary dysfunction: differentiation from choroideremia–hypopituitarism

“…1 Fundal appearance at 5 years. 2005).Twelve earlier reported cases of Oliver-McFarlane syndrome including two sib pairs have been observed (Haimi and Gershoni-Baruch, 2005). The only consistent features in every case are trichomegaly and chorioretinopathy and prenatal and postnatal growth restrictions.…”

“…A striking feature of our patient has been the progressive deterioration in his motor function, which has been attributed to his severe peripheral neuropathy. Peripheral neuropathy has been recognized in six earlier cases and two patients have, in addition, had evidence of progressive cerebellar ataxia (Chang et al, 1993;Haimi and Gershoni-Baruch, 2005). One of these had marked cerebellar dysgenesis on MRI (Chang et al, 1993).…”

Oliver-McFarlane Syndrome in a Chinese Boy: Retinitis Pigmentosa, Trichomegaly, Hair Anomalies and Mental Retardation

“…Among the 11 reported patients with Oliver-McFarlane syndrome, seven were sporadic, two were presumed to have autosomal recessive (AR) inheritance, 8 and two were AR or X-linked. In 2005, Haimi 8 described a brother and sister with long eyelashes, RP, growth failure, and sparse scalp hair.…”

Eyelashes: Anatomical and Physiological Features, Eyelash Loss and Trichomegaly: Review

“…24 Trikomegali, retinitis pigmentoza, mental retardasyon ve büyüme geriliği ile karakterizedir. 25 Diğer bildirilen bulgular arasında büyüme hormonu eksikliği, hipogonadizm, hipotiroidizm, alopesi areata, periferal nöropati, ataksi, koryoretinopati ve pitüi-ter disfonksiyon yer almaktadır. 25 Cornelia de Lange sendromu; tipik yüz görü-nümü, kısa boy, gelişme geriliği, mental retardasyon, hirsutizm, kardiyak, nörolojik, kas-iskelet anomalileri ve gastrointestinal malformasyonlarla karakterize, nadir görülen bir sendromdur.…”

“…25 Diğer bildirilen bulgular arasında büyüme hormonu eksikliği, hipogonadizm, hipotiroidizm, alopesi areata, periferal nöropati, ataksi, koryoretinopati ve pitüi-ter disfonksiyon yer almaktadır. 25 Cornelia de Lange sendromu; tipik yüz görü-nümü, kısa boy, gelişme geriliği, mental retardasyon, hirsutizm, kardiyak, nörolojik, kas-iskelet anomalileri ve gastrointestinal malformasyonlarla karakterize, nadir görülen bir sendromdur. 26,27 Tipik yüz görünümü; kavisli kaşlar, sinofiris, trikomegali, displastik ve düşük kulaklar, küçük burun, antevert nostriller, uzun ve belirgin filtrum ve ince üst dudak ile karakterizedir.…”