Geleophysic dysplasia: Report on two sibs

The authors describe two additional cases of Geleophysic dysplasia in siblings, which is a rare autosomal recessive disorder of glycoprotein metabolism whose basic defects remain to be determined.

Authorship

Raquel Boy

UERJ, Serviço de Genética Humana, Departamento de Biologia Celular e Genética, Instituto de BiologiaUERJUERJ, Serviço de Genética Humana, Departamento de Biologia Celular e Genética, Instituto de Biologia

Juan Llerena

FIOCRUZ, Centro de Genética Médica, Instituto Fernandes FigueiraFIOCRUZFIOCRUZ, Centro de Genética Médica, Instituto Fernandes Figueira

Márcia Mattos Gonçalves Pimentel

José Carlos Cabral de Almeida

FIOCRUZ, Centro de Genética Médica, Instituto Fernandes FigueiraFIOCRUZFIOCRUZ, Centro de Genética Médica, Instituto Fernandes Figueira

UFRJ, Unidade de Citogenética Humana, Instituto de Biofísica CCFo.UFRJUFRJ, Unidade de Citogenética Humana, Instituto de Biofísica CCFo.

SCIMAGO INSTITUTIONS RANKINGS

FIOCRUZ, Centro de Genética Médica, Instituto Fernandes FigueiraFIOCRUZFIOCRUZ, Centro de Genética Médica, Instituto Fernandes Figueira

UFRJ, Unidade de Citogenética Humana, Instituto de Biofísica CCFo.UFRJUFRJ, Unidade de Citogenética Humana, Instituto de Biofísica CCFo.

Figures | Tables

Figures (5)
Tables (1)

Thumbnail

Figure 1
- Patient 1: "Pleasant face", short limbs and small hands.

Thumbnail

Figure 2
- Patients 1 and 2: Ocular hypertelorism, small nose, thickened upper lip with long and flat philtrum, and pectus excavatum.

Thumbnail

Figure 3
- Radiograph showing brachycephaly (patient 1).

Thumbnail

Figure 4
- Radiograph showing decreased bone age, broad and round metacarpals.

Thumbnail

Figure 5
- A,B: Radiographs showing short and broad tubular bones.

Thumbnail

Patient 1 Patient 2 Age 6 yr 2 mo 4 yr 8 mo Sex Male Female Birth weight (g) 1800 Unknown Birth length (cm) Unknown Unknown Pregnancy/delivery Alcohol abuse/Normal Alcohol abuse/Normal Short stature < 3rd percentile 3rd percentile Short hands/feet + + Peculiar face + + Hepatomegaly (cm) - - Cardiac involvement IVC/dilated coronary sinus Subaortic ring Joint contractures (elbow) + + Psychomotor development Delayed Normal Head circumference (percentile) 50th 50th Stubby proximal phalanges (Rd) + + Oligosaccharide secretion (urine) - - Lysosomal vacuoles (Skin - EM) - NS

Figure 1 - Patient 1: "Pleasant face", short limbs and small hands.

Figure 2 - Patients 1 and 2: Ocular hypertelorism, small nose, thickened upper lip with long and flat philtrum, and pectus excavatum.

Figure 3 - Radiograph showing brachycephaly (patient 1).

Figure 4 - Radiograph showing decreased bone age, broad and round metacarpals.

Figure 5 - A,B: Radiographs showing short and broad tubular bones.

	Patient 1	Patient 2
Age	6 yr 2 mo	4 yr 8 mo
Sex	Male	Female
Birth weight (g)	1800	Unknown
Birth length (cm)	Unknown	Unknown
Pregnancy/delivery	Alcohol abuse/Normal	Alcohol abuse/Normal
Short stature	< 3rd percentile	3rd percentile
Short hands/feet	+	+
Peculiar face	+	+
Hepatomegaly (cm)	-	-
Cardiac involvement	IVC/dilated coronary sinus	Subaortic ring
Joint contractures (elbow)	+	+
Psychomotor development	Delayed	Normal
Head circumference (percentile)	50th	50th
Stubby proximal phalanges (Rd)	+	+
Oligosaccharide secretion (urine)	-	-
Lysosomal vacuoles (Skin - EM)	-	NS

How to cite

copy

Sociedade Brasileira de Genética Rua Cap. Adelmio Norberto da Silva, 736, 14025-670 Ribeirão Preto SP Brazil, Tel.: (55 16) 3911-4130 / Fax.: (55 16) 3621-3552 - Ribeirão Preto - SP - Brazil
E-mail: editor@gmb.org.br

Acompanhe os números deste periódico no seu leitor de RSS

Versão para download de PDF

O periódico não forneceu este documento em formato PDF.

Versões e tradução automática

Versão original do texto

English

Tradução automática

Google Translator
Microsoft Translator

Como citar

RIS

BIBTEX

Outros formatos de citação e exportação:

SciELO - Scientific Electronic Library Online
Rua Dr. Diogo de Faria, 1087 – 9º andar – Vila Clementino 04037-003 São Paulo/SP - Brasil
E-mail: scielo@scielo.org

Leia a Declaração de Acesso Aberto

Métricas

Geleophysic dysplasia: Report on two sibs

PlumX