Blepharophimosis, minor facial anomalies, genital anomalies, and mental retardation: Report of two sibs with a unique syndrome

Abstract

We report on two sibs, a 2.5-year-old girl and a 10-month-old boy, with a hitherto unreported combination of congenital anomalies: blepharophimosis, ptosis, midface hypoplasia, abnormal palate, low anterior and posterior hairlines, displaced hair whorl, apparently low-set and abnormally shaped ears, trigonocephaly, dental anomalies, laryngomalacia, sensorineural hearing loss, genital anomalies, hypotonia, and mental retardation. The occurrence of a similar pattern of anomalies in two sibs of opposite sex suggests autosomal recessive inheritance. To our knowledge, this combination of anomalies has not been reported previously, and thus we propose it to be a formal genesis syndrome.

Vici syndrome in siblings born to consanguineous parents

“…Three of these six cases, including our patient 1, have laryngomalacia or pharyngomalacia [Finocchi et al, ; Ozkale et al, ]. In the literature, both hearing loss and laryngomalacia are reported in some cases [del Campo et al, ; Nowaczyk and Sutcliffe, ; Murphy‐Ryan et al, ] and some other syndromes [Karakas et al, ; Harreus and Issing, ; Digilio et al, ; Thapa et al, ].…”

Enhanced biocompatibility of CoCr implant material by Ti coating and micro‐arc oxidation

“…These other syndromes include: ROCA‐Wiedemann syndrome [Wiedemann et al, 1985], Buntinx–Majewski syndrome [Buntinx and Majewski, 1990], and a blepharophimosis syndrome with severe IUGR [de Die‐Smulders et al, 1993]. Of special interest is the familial blepharophimosis syndrome reported by Nowaczyk and Sutcliffe 1999. These two sibs had blepharophimosis, ptosis, midface hypoplasia, dysplastic ears, trigonocephaly, fused incisors, laryngomalacia, sensorineural hearing loss, genital anomalies (hypospadias or hypoplastic labiae), and mental retardation.…”

“…This family is suggestive of AR autosomal recessive or X‐linked inheritance. Only Nowaczyk' s report of two sibs [Nowaczyk and Sutcliffe, 1999] can be compared to our probands. The children reported by Nowaczyk, born to unrelated parents, had very mild blepharophimosis, ptosis, midface hypoplasia, abnormal palate, trigonocephaly, dental anomalies, laryngomalacia, sensorineural hearing loss, genital anomalies, hypotonia, and mental retardation.…”

Review of X‐linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

“…These reports may represent examples of microdeletion/duplication syndromes. The Nowaczyk and Sutcliffe [] report may represent the same condition. MED12 has recently been identified as the responsible gene [Vulto‐van Silfhout et al, 2013].…”