Meningeal Angiomatosis, Arhinencephaly, Agenesis of the Corpus Callosum and Large Hamartoma of the Brain, With Neoplasia, in an Infant Having Bilateral Nasal Proboscis

Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister‐Hall syndrome)

“…In other instances, hypothalamic hamartomas with disturbed facial morphogenesis were associated with few alterations in the development of other body structures. This is exemplified by our patient 2 and by two previously reported patients [Gitlin and Behar, 1960;Rosen and Gitlin, 1959;Hennekam et al, 19861. More mature-appearing hypothalamic hamartomas have occurred with associated isolated defects in morphogenesis, such as cleft palate, single central maxillary incisor, or tetralogy of Fallot [Marcus et al, 1953;Winter et al, 19821.…”

“…Neuropathological evaluation demonstrated a 3.5 by 2.5 cm hypothalamic hamartoma, with immature neuronal tisue, deficient olfactory bulbs and tracts, absent cribiform plate, and a circumscribed cranial bone overlying the tumor. There were no other anomalies [Gitlin and Behar, 1960;Rosen and Gitlin, 19591. A second patient reported in 1986 had a median cleft face with hypertelorism, absent nasal root, bifid nose with three nasal openings, absent hard palate, and a Huff and Fernandez, 1982;Culler and Jones. 1984: Graham et al.…”

Reassessment of holoprosencephaly–diencephalic hamartoblastoma (HDH) association

“…The characteristics of this patient together with 19 additional published cases showing similar features are summarized in Table I [Marcuse et al, 1953;Rosen and Gitlin, 1959;Gitlin and Behar, 1960;Hall et al, 1980;Winter et al, 1982;Hennekam et al, 1986;Anyane-Yeboa et al, 1987;Iafolla et al, 1989;Golabi et al, 1991;Encha-Razavi et al, 1992;Kuller et al, 1992;Verloes et al, 1992Verloes et al, , 1995Ryals et al, 1993;Alikchanov et al, 1998;Rossiter et al, 2000;Vandenhaute et al, 2000;Akman et al, 2002;Gulati et al, 2002;Kizilkilic et al, 2005;Saxonhouse et al, 2005]. Some of these patients had been considered examples of PHS, Meckel, or hydrolethalus syndromes [Hall et al, 1980;Anyane-Yeboa et al, 1987;Encha-Razavi et al, 1992;Kuller et al, 1992], although this conclusion was not supported by published diagnostic criteria [Salonen and Herva, 1990;Biesecker et al, 1996;Salonen and Paavola, 1998].…”

“…In 1992, Verloes and colleagues classified patients with HH and additional findings in (i) syndromal HH, (ii) HH plus frontonasal dysplasia, or (iii) plus holoprosencephaly (HPE), and grouped these conditions in the ''cerebro-acrovisceral early lethality complex.'' The association of HH with HPE and, more rarely, with frontonasal dysplasia has been reported only in 19 patients till date [Marcuse et al, 1953;Rosen and Gitlin, 1959;Gitlin and Behar, 1960;Hall et al, 1980;Winter et al, 1982;Hennekam et al, 1986;Anyane-Yeboa et al, 1987;Iafolla et al, 1989;Encha-Razavi et al, 1992;Kuller et al, 1992;Verloes et al, 1992Verloes et al, , 1995Ryals et al, 1993;Alikchanov et al, 1998;Rossiter et al, 2000;Vandenhaute et al, 2000;Akman et al, 2002;Gulati et al, 2002;Kizilkilic et al, 2005;Saxonhouse et al, 2005]. These features may be explained by a disruptive sequence, secondary to a neoplasm forming as early as the 3rd week of gestation [Iafolla et al, 1989;Verloes et al, 1992].…”

Proboscis Lateralis: Evaluation of the Anomaly and a Review of Two Cases

“…10 Although most cases in the literature are unilateral, 1,3,6 -8, 10 -18 there are reports of bilateral cases. 19,20 Radiological studies focusing on the characteristics and relationship of the proboscis with adjacent structures have revealed that patients have rudimentary nasal bones. 8 Evaluations of the proboscis with computed tomography and magnetic resonance imaging have shown that the antrum nasi, ethmoids, and frontal sinuses may be absent as well.…”