Bilateral Nasal Proboscis: Associated with Unilateral Anophthalmia, Unilateral Diffuse Pigmentation of the Conjunctiva, and Anomalies of the Skull and Brain

Rosen, Zvi; Gitlin, Gershon

doi:10.1001/archotol.1959.00730040557002

Cited by 29 publications

(14 citation statements)

References 10 publications

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“…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].…”

Section: Discussionmentioning

confidence: 88%

“…In fact, although most of the cases are sporadic (17/20) with some instances of advanced parental age at conception, suggesting a ''de novo'' mutation [Rosen and Gitlin, 1959;Hall et al, 1980;Verloes et al, 1992], teratogenic/drug exposure (i.e., insecticide, alcohol, and Primatour 1 ) was registered in three instances [Hall et al, 1980;Hennekam et al, 1986;Rossiter et al, 2000]. Three families supported the recurrence of this disorder, although the presence of HH was not confirmed in the second child.…”

Section: Etiologymentioning

confidence: 94%

“…Four patients had a second tumor or mass, including meningeal angiomatosis, frontal lipoma, tongue cyst, epignathus, and gum nodules in the cephalic pole [Rosen and Gitlin, 1959;Hennekam et al, 1986;Verloes et al, 1995;Vandenhaute et al, 2000]. In one case, the pattern of craniofacial dysmorphisms suggested that HH had preceded the frontal lipoma, arising after the migration of neural crest cells [Hennekam et al, 1986].…”

Section: Sequencementioning

confidence: 99%

“…In general, perturbation of the stereotactic relationship by an early HH may affect facial structures and results in midline dysmorphisms (i.e., single superior medial incisor, cleft lip/palate), which were the sole HPE manifestations in three HDH patients [Marcuse et al, 1953;Winter et al, 1982;Saxonhouse et al, 2005]. On the other hand, two HDH cases had no obvious facial holoprosencephalic features, but rather bilateral nasal proboscis and frontonasal dysplasia [Rosen and Gitlin, 1959;Hennekam et al, 1986]. This seems to be due to the interposition of a large HH, resembling a third medial frontal lobe, in one case, and a frontal lipoma in the other.…”

Section: Sequencementioning

confidence: 99%

“…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].…”

Section: Introductionmentioning

confidence: 99%

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Reassessment of holoprosencephaly–diencephalic hamartoblastoma (HDH) association

Castori

Douzgou

Silvestri

et al. 2007

American J of Med Genetics Pt A

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We report on a 23-week fetus with a hypothalamic hamartoma, lobar holoprosencephaly, right anophthalmia, and facial asymmetry, features which are consistent with the holoprosencephaly-diencephalic hamartoblastoma (HDH) association. In an attempt to better delineate HDH, we reviewed 19 published patients with similar features. The HDH clinical spectrum ranges from classic holoprosencephaly with micro/anophthalmia, multiple additional findings in non-contiguous structures and early lethality, to isolated microforms of holoprosencephaly. Associated cephalic features mainly include cortical/neuronal migration defects (39%), meningeal anomalies (28%), brainstem/posterior fossa malformations (22%), dysmorphic ears (41%), facial asymmetry (35%), and hypoplastic mandible (29%). Fifty-three percent of patients have additional extra-cephalic malformations, for example, vertebral/rib segmentation defects (50%), hypo/aplastic lungs (38%), congenital heart defect (29%), and urinary anomalies (29%). HDH shows etiological heterogeneity, that is, teratogenic exposure, chromosome imbalances, autosomal recessive as well as dominant "de novo" mutations. Several features could directly result from a disruptive sequence caused by an early hamartoma which alters the development of forebrain, hindbrain, meninges, and 1st-2nd branchial arches, although the pleiotropic action of genetic/environmental factors cannot be excluded. HDH does not emerge as a distinct syndrome, but other hypotheses, including separate conditions within a common pathway and the developmental field defect theory, are discussed.

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Section: Discussionmentioning

confidence: 88%

Section: Etiologymentioning

confidence: 94%

Section: Sequencementioning

confidence: 99%

Section: Sequencementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Reassessment of holoprosencephaly–diencephalic hamartoblastoma (HDH) association

Castori

Douzgou

Silvestri

et al. 2007

American J of Med Genetics Pt A

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

et al. 1989

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We report one new case of congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome) and one case of a diencephalic nodule associated with craniofacial malformations. Based on a review of 11 cases of Pallister-Hall syndrome documented by pathological examination, two cases presumed by phenotype, three cases of hypothalamic hamartoma with craniofacial anomalies only, and several cases of related interest, we delineate the clinical, neuroradiologic, and neuropathologic manifestations which aid in differential diagnosis. Clinical manifestations in infants with Pallister-Hall syndrome included postaxial polydactyly with nail dysplasia, short nose with flat nasal bridge, apparently low-set, posteriorly angulated ears, kidney and lung anomalies, congenital heart defects, imperforate anus, and micropenis with undescended or hypoplastic testes in males. These manifestations were associated with varying degrees of panhypopituitarism and pituitary aplasia. In three cases of hypothalamic hamartoma associated with craniofacial anomalies only, the face resembled that of holoprosencephaly. Other cases of hypothalamic hamartoma have had associated palate or heart defects or presented with precocious puberty. Of the infants with a hypothalamic hamartoblastoma at autopsy, neuropathologic findings were consistent with a primitive neuroectodermal tumor. Surgical tissue from our sole survivor suggested such tumors might mature, and the tumor has not recurred. Neuroradiologic diagnosis may be difficult but should be attempted in infants with these clinical manifestations; due to the need for prompt initiation of appropriate therapy.

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Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: Review and delineation of the Cerebro‐Acro‐Visceral Early lethality (CAVE) multiplex syndrome

et al. 1992

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We report on a case of neonatal hypothalamic hamartoblastoma with holoprosencephaly, Hirschsprung disease, and tetramelic postaxial polydactyly. Twenty-seven previous cases of congenital hypothalamic embryonic tumours with associated congenital defects are reviewed. A classification in isolated, associated, and syndromal forms is proposed. The difficulties encountered in differential diagnosis between the syndromal form (mainly represented by the Pallister-Hall syndrome) and related diseases as Smith-Lemli-Opitz type II, holoprosencephaly-polydactyly, orofaciodigital type VI and hydrolethalus syndromes are outlined. Two pathogenic mechanisms are discussed: a classical pleiotropic model and single sequence model. The latter is sufficient to delineate syndromal hypothalamic hamartoblastoma. With the former, syndromal hypothalamic hamartoblastoma cannot be clearly recognized in the absence of a CNS tumour, a child with syndromal hypothalamic hamartoblastoma cannot be reliably diagnosed as Pallister-Hall rather than another MCA syndrome, and, ultimately, the existence of Pallister-Hall syndrome could be questioned, as it could only be the extreme expression of one or several other syndromes. As this hypothesis cannot be proven or disproven at this point, the authors suggest creating the concept of multiplex phenotype. "Cerebro-Acro-Visceral Early lethality multiplex syndrome" is suggested to encompass all the ambiguous cases. Within this complex, an operative classification key is proposed.

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Bilateral Nasal Proboscis: Associated with Unilateral Anophthalmia, Unilateral Diffuse Pigmentation of the Conjunctiva, and Anomalies of the Skull and Brain

Cited by 29 publications

References 10 publications

Reassessment of holoprosencephaly–diencephalic hamartoblastoma (HDH) association

Reassessment of holoprosencephaly–diencephalic hamartoblastoma (HDH) association

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

Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: Review and delineation of the Cerebro‐Acro‐Visceral Early lethality (CAVE) multiplex syndrome

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