Megalocornea-mental retardation syndrome: An additional case report

A case of megalocornea-mental retardation syndrome complicated with bilateral sensorineural hearing impairment

“…The patients of Gibbs et al 2 and Naritomi et al 3 and our patient share many features, including megalocornea and developmental delay as well as normal or decreased head circumferences and common facial dysmorphism (a bosselated forehead, bushy eyebrows, hypertelorism, a broad, flat nasal bridge with a broad nasal tip and a carp‐shaped mouth). Thus, it is tempting to assume that these patients constitute a subgroup of MMR.…”

“…In fact, the most severe symptoms of this subgroup may correspond to the phenotypes of MMR type II. The patients of Gibbs et al 2 and Naritomi et al 3 and our patient showed short stature, but somatic growth retardation is a feature of MMR type II 10 . However, several manifestations in our patient, including the sensorineural hearing impairment, cutaneous pits on the inner canthi, ear pits and hyperlipidemia, have not been reported in any patients with MMR.…”

“…A tentative classification of MMR subtypes (MMR type I–IV) has been proposed by Verloes et al ; 1 however, phenotypic overlaps are striking among these patients. We recently treated a Japanese girl with symptoms similar to those of a MMR subset reported by Gibbs et al 2 and Naritomi et al ; 3 however, she also showed previously undescribed findings.…”

“…Since the original report, 4 25 cases of MMR syndrome have been reported, including our patient 1 , 3 , 5 –9 . Verloes et al 1 compared the phenotypes of 21 cases with MMR syndrome and subclassified MMR into five subtypes (Table 1).…”

Primary hypothyroidism and osteopenia associated with Neuhauser syndrome

“… * Antinolo et al [1994]; Barisic et al [1996]; Del Giudice et al [1987]; Frank et al [1973]; Frydman et al [1990]; Gibbs et al [1994]; Gronbech‐Jensen [1989]; Kimura et al [1991]; Naritomi et al [1997]; Neuhauser et al [1975]; Ohno and Suzuki [1978]; Santolaya et al [1992]; Schmidt and Rapin [1981]; Tominaga et al [1999]; Temtamy et al [1991]; Verloes et al [1993]. …”