A Form of Bird-Headed Dwarfism With Features of Premature Senility

Progeria: Autopsy Report of One Case, with a Review of Pathologic Findings Reported in the Literature*

“…This elastotic abnormality is supposed to be a degeneration of the collagenous fibrils (26). Elastotic degeneration was also described in Fitch's case of bird‐headed dwarfism and premature senility (27). The skin in gerodermia (28, 29), which seems related to progeria, is supposed to represent a similar lesion, although there is a lack of confirmatory histologic observation.…”

Progeria: Autopsy Report of One Case, with a Review of Pathologic Findings Reported in the Literature*

“…This elastotic abnormality is supposed to be a degeneration of the collagenous fibrils (26). Elastotic degeneration was also described in Fitch's case of bird‐headed dwarfism and premature senility (27). The skin in gerodermia (28, 29), which seems related to progeria, is supposed to represent a similar lesion, although there is a lack of confirmatory histologic observation.…”

Clinical and roentgenographic findings in a patient with primordial microcephalic dwarfism type Caroline Crachami

“…The patient described by Grossmann et al [1954] had a pseudosenile appearance, and could also belong to this syndrome, even though he was severely mentally retarded. Fitch et al [1970] described a patient with a form of bird-headed dwarfism with premature senility but his birth weight was normal. Growth hormone function assessed in these patients was normal, and growth hormone treatment undertaken in two children was not effective [Boscherini et al, 19811. In conclusion, the patient described in the present report, along with our previous patients [Boscherini et al, 19811 and Caroline Crachami, seem to belong to a subgroup of microcephalic primordial dwarfism.…”

Primordial Birdheaded Nanism Associated with Progressive Ataxia, Early Onset Insulin Resistant Diabetes, Goiter and Primary Gonadal Insufficiency.

“…in Friedreich's ataxia (l), ataxia telangiectasia (2), myotonic dystrophy (3), and congenital generalized lipodystrophy (Seip-Berardinelli) (4,5). In this paper we present two patients, brother and sister, with hyperinsulinaemia, progressive ataxia and Seckel syndrome-like features (6,7,8).…”

Progeria: Autopsy Report of One Case, with a Review of Pathologic Findings Reported in the Literature*

“…This elastotic abnormality is supposed to be a degeneration of the collagenous fibrils (26). Elastotic degeneration was also described in Fitch's case of bird‐headed dwarfism and premature senility (27). The skin in gerodermia (28, 29), which seems related to progeria, is supposed to represent a similar lesion, although there is a lack of confirmatory histologic observation.…”

Clinical and roentgenographic findings in a patient with primordial microcephalic dwarfism type Caroline Crachami

“…The patient described by Grossmann et al [1954] had a pseudosenile appearance, and could also belong to this syndrome, even though he was severely mentally retarded. Fitch et al [1970] described a patient with a form of bird-headed dwarfism with premature senility but his birth weight was normal. Growth hormone function assessed in these patients was normal, and growth hormone treatment undertaken in two children was not effective [Boscherini et al, 19811. In conclusion, the patient described in the present report, along with our previous patients [Boscherini et al, 19811 and Caroline Crachami, seem to belong to a subgroup of microcephalic primordial dwarfism.…”

Primordial Birdheaded Nanism Associated with Progressive Ataxia, Early Onset Insulin Resistant Diabetes, Goiter and Primary Gonadal Insufficiency.

“…in Friedreich's ataxia (l), ataxia telangiectasia (2), myotonic dystrophy (3), and congenital generalized lipodystrophy (Seip-Berardinelli) (4,5). In this paper we present two patients, brother and sister, with hyperinsulinaemia, progressive ataxia and Seckel syndrome-like features (6,7,8).…”

Progeria: Autopsy Report of One Case, with a Review of Pathologic Findings Reported in the Literature*

“…This elastotic abnormality is supposed to be a degeneration of the collagenous fibrils (26). Elastotic degeneration was also described in Fitch's case of bird‐headed dwarfism and premature senility (27). The skin in gerodermia (28, 29), which seems related to progeria, is supposed to represent a similar lesion, although there is a lack of confirmatory histologic observation.…”

Clinical and roentgenographic findings in a patient with primordial microcephalic dwarfism type Caroline Crachami

“…The patient described by Grossmann et al [1954] had a pseudosenile appearance, and could also belong to this syndrome, even though he was severely mentally retarded. Fitch et al [1970] described a patient with a form of bird-headed dwarfism with premature senility but his birth weight was normal. Growth hormone function assessed in these patients was normal, and growth hormone treatment undertaken in two children was not effective [Boscherini et al, 19811. In conclusion, the patient described in the present report, along with our previous patients [Boscherini et al, 19811 and Caroline Crachami, seem to belong to a subgroup of microcephalic primordial dwarfism.…”

Primordial Birdheaded Nanism Associated with Progressive Ataxia, Early Onset Insulin Resistant Diabetes, Goiter and Primary Gonadal Insufficiency.

“…in Friedreich's ataxia (l), ataxia telangiectasia (2), myotonic dystrophy (3), and congenital generalized lipodystrophy (Seip-Berardinelli) (4,5). In this paper we present two patients, brother and sister, with hyperinsulinaemia, progressive ataxia and Seckel syndrome-like features (6,7,8).…”