A new Seckel-like syndrome of primordial dwarfism

Abstract

Seckel syndrome is a rare, recessively inherited disorder of severe growth retardation and distinct craniofacial, orodental, and skeletal anomalies. Even though there are well‐established minimum diagnostic criteria for this syndrome, controversy exists about its boundaries and criteria for exclusion. We studied 2 remarkably similar, unrelated children with most of the clinical and radiographic manifestations of Seckel's original patient. Although their craniofacial and orodental anomalies are typical of Seckel syndrome, 1 child has unusual appearance of the hands and feet that have not been previously associated with it. This patient appears to define a new Seckel‐like syndrome and suggests heterogeneity in this type of primordial dwarfism. © 1996 Wiley‐Liss, Inc.

A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder

“…The term “microcephalic osteodysplastic primordial dwarfism” (MOPD) refers to the entities Seckel syndrome and microcephaly osteodysplastic primordial dwarfism (MOPD) type I/III and type II [Majewski et al, 1982; Meinecke and Passarge, 1991]. Variants of MOPD or Seckel‐like syndrome have been described [Shebib et al, 1991; Buebel et al, 1996]. They share common findings such as severe intrauterine and postnatal growth retardation, microcephaly, prominent nose, and micrognathia, but they have been delineated on the basis of specific clinical and radiological criteria.…”

Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings

“…It is a very heterogeneous group of disorder that has been classified into three main types: Seckel syndrome, microcephalic osteodysplastic primordial dwarfism (MOPD) type I/III and type II [Meinecke and Passarge, 1991;Majewski and Goecke, 1998]. Variants of MOPD or Seckel-like syndrome have been described [Shebib et al, 1991;Buebel et al, 1996]. Seckel syndrome, the best known one, is characterized by severe intrauterine and postnatal proportional short stature, severe microcephaly, mild to moderate mental retardation, large and prominent nose, and dislocation of the head of radius [Seckel, 1960].…”

Human syndromes with congenital patellar anomalies and the underlying gene defects

“…The most serious aspects of MGS are feeding difficulties and frequently recurring respiratory infections in early infancy. Growth hormone analysis appeared to be normal in most cases and growth hormone therapy did not reveal improvement in growth (73,74,78,79,86,88,89). Despite a catch-up of growth during adolescence, adult height is below the third percentile.…”

“…Meier-Gorlin syndrome (MGS) is an autosomal recessive pleiotropic condition, originally described by Meier and Rothschild (71) and by Gorlin et al (72). MGS is a rare disorder, as only 42 cases have been reported to date (71)(72)(73)(74)(75)(76)(77)(78)(79)(80)(81)(82)(83)(84)(85)(86)(87). The syndrome is also named 'ear-patella-short stature syndrome', synonymous for the classical triad of bilateral microtia, patellar aplasia or hypoplasia, and severe pre-and postnatal growth retardation (84).…”