Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients

Abstract

Pontocerebellar hypoplasia (PCH) can occur as an isolated entity or part of a syndrome. PCH has been reported with facial dysmorphism, ocular anomalies, and genital anomalies, but the co-occurrence of all four has not been previously described. We report on four patients, born to two consanguineous families that are not related to one another, with distinctive facial features (short forehead, laterally extended, medially flared eyebrows), corneal dystrophy, underdevelopment of labioscrotal folds, and nonprogressive PCH. In addition, the patients show hair extruding from the lactiferous ducts, which to our knowledge has not been described before. The parental consanguinity, affected siblings of both genders, and absent manifestations in parents, indicate an autosomal recessive pattern of inheritance as most likely. © 2016 Wiley Periodicals, Inc.

Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis

“…The majority of clinical reports focused on the reconstructive surgery procedures, with few general examination details. More recently, a family with three affected siblings born from a consanguineous union was reported, including one boy presenting with scrotal agenesis and two girls with absent labia major, associated with ophthalmological anomalies, gross psychomotor delay (6,10). These familial cases presented syndromic features overlapping with a previous clinical report, suggesting the existence of a previously described autosomal recessive syndrome with scrotal agenesis (4).…”

“…We hypothesize that this condition is caused by autosomal recessive mutations of MAB21L1 based on genetic and developmental arguments. The demonstration of this hypothesis will rely on the genetic replication of this finding in the reported cases of the literature .…”

“…Literature review identified nine cases reported with congenital scrotal agenesis, mainly in surgical reconstructive strategies journals (1)(2)(3)(4)(5)(6)(7)(8)(9)(10). In these reports, the clinical data available were often limited and reviewed here.…”

“…Congenital malformations of the scrotum include scrotal hypoplasia, bifid scrotum, accessory scrotum, penile scrotal transposition, ectopic scrotum and agenesis of scrotum. The congenital agenesis of scrotum is an extremely rare clinical finding with only nine unrelated cases reported in literature with bilateral (6/9 cases) or unilateral (3/9 cases) scrotal agenesis . In six of the patients, this abnormality was associated with various syndromic features including gross psychomotor delay, facial dysmorphism, ophthalmological abnormalities, cerebellar malformations, or gastrointestinal defects .…”

“…The congenital agenesis of scrotum is an extremely rare clinical finding with only nine unrelated cases reported in literature with bilateral (6/9 cases) or unilateral (3/9 cases) scrotal agenesis (1)(2)(3)(4)(5)(6)(7)(8)(9)(10). In six of the patients, this abnormality was associated with various syndromic features including gross psychomotor delay, facial dysmorphism, ophthalmological abnormalities, cerebellar malformations, or gastrointestinal defects (2)(3)(4)(5)(7)(8)(9)(10). Several syndromes are known to be associated with scrotal agenesis, including cutis marmorata telangiectasia congenital (7), Prader-Willi syndrome, PHACE syndrome (9), popliteal pterygium syndrome (5).…”