Dafne Dain Gandelman Horovitz

Dados pessoais

Lattes
Grupos de Pesquisa
Genealogia Acadêmica

Nacionalidade: Brasileira
Grande área de atuação: Ciências da Saúde
Área de atuação: Medicina

Publicações

Total: 306

Área temática ASJC

Percentual das publicações classificadas

HS Ciências da Saúde
LS Ciências da Vida
MU Multidisciplinar
PS Ciências Físicas
SH Ciências Sociais e Humanidades

Categoria ASJC

Categorias ASJC mais frequentes

Nome	Vínculo	Grande área de atuação	Área de atuação
Nome	Vínculo	Grande área de atuação	Área de atuação
Alexandra Prufer De Queiroz Campos ARAÚJO		Ciências da Saúde	Medicina
Cesar Gomes VICTORA		Ciências da Saúde	Medicina
Chong Ae KIM		Ciências da Saúde	Medicina
Decio BRUNONI		Ciências Biológicas	Genética
Juan Clinton Llerena JUNIOR		Ciências da Saúde	Medicina
Marcos Antonio Ferreira Do NASCIMENTO		Ciências da Saúde	Saúde Coletiva
Roberto GIUGLIANI	Membro	Ciências Biológicas	Genética

Figura 1

Número de publicações por ano e por tipo

Todas as publicações do perfil

Figura 2

Categorias ASJC mais frequentes por ano

A cor dos pontos identifica a categoria predominante

Figura 3

Mapa de calor das categorias ASJC por ano

Frequências absolutas; cores mais escuras indicam mais publicações. Todas as categorias ASJC e anos disponíveis, sem aplicar os filtros da página.

Escala: 0 → 15

Mapa de calor das categorias ASJC por ano
Categoria ASJC	1991	1992	1993	1994	1995	1996	1997	1998	1999	2000	2001	2002	2003	2004	2005	2006	2007	2008	2009	2010	2011	2012	2013	2014	2015	2016	2017	2018	2019	2020	2021	2022	2023	2024	2025	2026
2716 · Genetics (clinical)	0	0	2	2	0	7	1	1	0	1	1	0	2	3	2	11	8	3	5	3	0	3	1	7	2	3	2	0	1	2	4	0	1	2	0	0
2701 · Medicine (miscellaneous)	0	3	1	3	1	2	2	0	0	1	3	1	0	4	3	5	15	0	3	0	0	0	3	5	0	0	3	3	3	3	1	1	0	0	0	0
1311 · Genetics	0	3	0	4	3	4	0	0	2	1	0	0	1	1	3	3	2	0	2	0	3	2	0	1	0	0	1	1	2	1	2	1	2	0	1	0
2735 · Pediatrics; Perinatology and Child Health	0	1	0	1	1	6	1	0	0	0	0	0	1	0	1	0	2	0	1	0	1	0	1	0	0	1	1	0	1	1	0	0	0	1	0	0
3201 · Psychology (miscellaneous)	1	0	1	1	0	1	3	0	0	0	0	0	0	0	0	1	1	0	2	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0
2808 · Neurology	0	0	1	1	1	1	0	1	0	0	0	0	0	0	1	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2728 · Neurology (clinical)	0	2	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	1	0	0	1	0
2739 · Public Health; Environmental and Occupational Health	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	2	0	0	0	0	1	0	0
1301 · Biochemistry; Genetics and Molecular Biology (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	2	0	0	0	0	0	0	0	0	0	0	0	0
2700 · General Medicine	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0
2712 · Endocrinology; Diabetes and Metabolism	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	3	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2801 · Neuroscience (miscellaneous)	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0
2710 · Embryology	0	0	0	1	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2713 · Epidemiology	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1
3304 · Education	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0
3601 · Health Professions (miscellaneous)	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1201 · Arts and Humanities (miscellaneous)	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2705 · Cardiology and Cardiovascular Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0
2736 · Pharmacology (medical)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2738 · Psychiatry and Mental Health	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0
1103 · Animal Science and Zoology	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1303 · Biochemistry	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1308 · Clinical Biochemistry	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1309 · Developmental Biology	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1312 · Molecular Biology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0
1313 · Molecular Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0
1702 · Artificial Intelligence	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0
1706 · Computer Science Applications	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0
2001 · Economics; Econometrics and Finance (miscellaneous)	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0
2405 · Parasitology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0
2719 · Health Policy	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0
2724 · Internal Medicine	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0
2725 · Infectious Diseases	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0
2741 · Radiology; Nuclear Medicine and Imaging	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0
2806 · Developmental Neuroscience	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0
2916 · Nutrition and Dietetics	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0
3200 · General Psychology	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0
3300 · General Social Sciences	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0
3306 · Health (social science)	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0

Ano	Tipo	Registro	Área temática e categoria ASJC
	Tipo de Publicação	Registro	Área temática e categoria ASJC
2009	Artigo em periódico	Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis Muñoz Rojas María VERÓNICA; Dafne Dain Gandelman HOROVITZ; Jardim Laura BANNACH; Raymundo MARCIA; Llerena Jr Juan CLINTON et al Molecular Genetics and Metabolism DOI 10.1016/j.ymgme.2009.11.008 ISSN 1096-7192	HS Genetics (clinical)
2008	Artigo em periódico	Initial report from the Hunter Outcome Survey Wraith J EDMOND; Beck MICHAEL; Giugliani ROBERTO; Clarke JOE; Martin RICK et al Genetics in Medicine DOI 10.1097/GIM.0b013e31817701e6 ISSN 1098-3600	HS Genetics (clinical)
2008	Artigo em periódico	A large-scale mutation search reveals genetic heterogeneity in 3M syndrome Huber CÉLINE; Delezoide Anee LISE; Guimiot FABIEN; Baumann CLARISSE; Malan VALÉRIE et al European Journal of Human Genetics DOI 10.1038/ejhg.2008.200 ISSN 1018-4813	HS Genetics (clinical)
2008	Artigo em periódico	Preliminary data of Enzyme Replacement Therapy in MPS patients under 3 years-old Marcelo KERSTENESTZKY; Erlane RIBEIRO; Dafne Dain Gandelman HOROVITZ; Juan Clinton Llerena JR; Chong Ae KIM et al Journal of Inherited Metabolic Disease ISSN 0141-8955	HS Genetics (clinical)
2007	Trabalho em evento	Enzyme Replacement Therapy with recombinant acid alpha-glucosidase in early onset Pompe disease Juan Clinton Llerena JR; Maria Angelica F D LIMA; Maria Auxiliadora VILLAR; Anna Claudia Evangelista Dos SANTOS; Aline Teixeira Da COSTA et al The International Congress of Genetics in Pediatrics	HS Medicine (miscellaneous)
2007	Trabalho em evento	Treating Osteogenesis Imperfecta and MPS-I Juan Clinton Llerena JR; Cecilia Oliveira BARBOSA; Maria Auxiliadora VILLAR; Anna Claudia Evangelista Dos SANTOS; Aline Teixeira Da COSTA et al The International Congress of Genetics in Pediatrics	HS Medicine (miscellaneous)
2007	Trabalho em evento	Enzyme Replacement Therapy in 2 patients with early-onset Pompe Disease Dafne Dain Gandelman HOROVITZ; Juan Clinton Llerena JR; Maria Auxiliadora VILLAR; Anna Claudia Evangelista Dos SANTOS; Maria Angelica F D LIMA et al Annual Clinical Genetics Meeting - American College of Medical Genetics	HS Genetics (clinical)
2007	Trabalho em evento	Floating-Harbor Syndrome: A Case Report Anna Claudia Evangelista Dos SANTOS; Maria Auxiliadora VILLAR; Aline Teixeira Da COSTA; Tatiana MAGALHÃES; Maria Angelica F D LIMA et al Annual Clinical Genetics Meeting - American College of Medical Genetics	HS Genetics (clinical)
2007	Trabalho em evento	Pamidronate Dissodium (PD) Treatment Beguinning in the Neonatal Period: Preliminary Results in 5 Osteogenesis Imperfecta (OI) Patients Maria Angelica F D LIMA; Cecilia Oliveira BARBOSA; Anna Claudia Evangelista Dos SANTOS; Maria Auxiliadora VILLAR; Aline Teixeira Da COSTA et al Annual Clinical Genetics Meeting - American College of Medical Genetics	HS Genetics (clinical)
2007	Trabalho em evento	Congenital Central Hypoventilation and Hirschprung's Disease: A Case Report of Haddad Syndrome Maria Auxiliadora VILLAR; Maria Angelica F D LIMA; Anna Claudia Evangelista Dos SANTOS; Aline Teixeira Da COSTA; Tatiana MAGALHÃES et al Annual Clinical Genetics Meeting - American College of Medical Genetics	HS Medicine (miscellaneous)
2007	Trabalho em evento	Osteogenesis Imperfecta Treatment with Bisphosphonates in Rio de Janeiro - Brazil Cecilia Oliveira BARBOSA; Anna Claudia Evangelista Dos SANTOS; Maria Auxiliadora VILLAR; Aline Teixeira Da COSTA; Maria Angelica F D LIMA et al Annual Clinical Genetics Meeting - American College of Medical Genetics	HS Genetics (clinical)
2007	Trabalho em evento	Discussion on undiagnosed case: ocular anomalies; scoliosis; marfanoid habitus; coagulation disorder and consanguinity: autosomal recessive collagen defect? Dafne Dain Gandelman HOROVITZ; Juan Clinton Llerena JR 3rd International Conference on Birth Defects and Disabilities in the Developing World	LS Neurology
2007	Trabalho em evento	MPS Brazil Network: a country-wide initiative to improve diagnosis and management fo mucopolysaccharidosis in Brazil Roberto GIUGLIANI; Ida Vanessa D SCHWARTZ; Andressa FEDERHEN; Louise Lapagesse PINTO; Ursula MATTE et al 3rd International Conference on Birth Defects and Disabilities in the Developing World	HS Epidemiology
2007	Trabalho em evento	Early-onset Pompe Disease: enzyme replacement therapy in 2 patients Dafne Dain Gandelman HOROVITZ; Maria Auxiliadora VILLAR; Anna Claudia Evangelista Dos SANTOS; Aline Teixeira Da COSTA; Maria Angelica F D LIMA et al 3rd International Conference on Birth Defects and Disabilities in the Developing World	HS Genetics (clinical)
2007	Trabalho em evento	Left-sided bilaterality sequence: a case report Maria Auxiliadora VILLAR; Aline Teixeira Da COSTA; Maria Angelica F D LIMA; Maria Helena Cabral De Almeida CARDOSO; Heloisa L NOVAES et al 3rd International Conference on Birth Defects and Disabilities in the Developing World	LS Neuroscience (miscellaneous)
2007	Trabalho em evento	Congenital Central Hypoventilation (CCH) and Hirschsprung's Disease (HD): a case report of Haddad Syndrome Maria Auxiliadora VILLAR; Maria Helena Cabral De Almeida CARDOSO; Aline Teixeira Da COSTA; Maria Angelica F D LIMA; Tatiana MAGALHÃES et al 3rd International Conference on Birth Defects and Disabilities in the Developing World	HS Medicine (miscellaneous)
2007	Trabalho em evento	Touraine-Solente-Golé Syndrome / Pachydermoperiostosis: a case report Tatiana MAGALHÃES; Renata ZLOT; Maria Auxiliadora VILLAR; Dafne Dain Gandelman HOROVITZ; Aline Teixeira Da COSTA et al 3rd International Conference on Birth Defects and Disabilities in the Developing World	HS Medicine (miscellaneous)
2007	Trabalho em evento	Terapia de reposição enzimática intra tecal em paciente com MPS VI e compressão medular incapacitante Dafne Dain Gandelman HOROVITZ; Maria Veronica MUNOZ; R COSTA; Laura B JARDIM; Taiane VIEIRA et al 1er Congresso Latinoamericano de Enfermidades Lisosomales	HS Medicine (miscellaneous)
2007	Trabalho em evento	MPS Brazil-Network: 3;5 years improving diagnosis and management of mucopolysaccharidoses in Brazil Ida Vanessa D SCHWARTZ; Andressa FEDERHEN; Silva R; M BURIN; J COELHO et al 1er Congresso Latinoamericano de Enfermidades Lisosomales	HS Endocrinology; Diabetes and Metabolism
2007	Trabalho em evento	The Hunter outcome survey: data on latin american patients and preliminary comparison with data from the rest of the world Roberto GIUGLIANI; Louise Lapagesse PINTO; Taiane VIEIRA; Maria Veronica MUNOZ; Ida Vanessa D SCHWARTZ et al 1er Congresso Latinoamericano de Enfermidades Lisosomales	HS Genetics (clinical)
2007	Trabalho em evento	Achados anatomopatologicos em dois pacientes com Doença de Pompe de início precoce em terapia de reposição enzimática (TRE) Dafne Dain Gandelman HOROVITZ; Elizabeth Avvad PORTARI; Elide VANAZZI; Maria Auxiliadora VILLAR; Aline Teixeira Da COSTA et al XII Simposio Latinoamericano de Enfermedades de Deposito Lisosomal	HS Medicine (miscellaneous)
2007	Trabalho em evento	Compressão medular incapacitante em MPS VI: recorrência familiar e terapia intra tecal de reposição enzimática Maria Veronica MUNOZ; Dafne Dain Gandelman HOROVITZ; R COSTA; Laura B JARDIM; Taiane VIEIRA et al XII Simposio Latinoamericano de Enfermedades de Deposito Lisosomal	HS Pharmacology (medical)
2007	Trabalho em evento	Doença de Pompe de Inicio Precoce: relato de série de casos brasileiros Juan Clinton Llerena JR; Sueli Kazue Nagahashi MARIE; Mary Souza De CARVALHO; Gilda PORTA; Ana Maria MARTINS et al XII Simposio Latinoamericano de Enfermedades de Deposito Lisosomal	HS Medicine (miscellaneous)
2007	Trabalho em evento	Doença de Pompe de Início Tardio: relato de série de casos brasileiros Juan Clinton Llerena JR; Sueli Kazue Nagahashi MARIE; Mary Souza De CARVALHO; Gilda PORTA; Ana Maria MARTINS et al XII Simposio Latinoamericano de Enfermedades de Deposito Lisosomal	HS Medicine (miscellaneous)
2007	Trabalho em evento	Autopsy findings in 2 early-onset Pompe disease (EOPD) CRIM negative patients on enzyme replacement therapy (ERT) Juan Clinton Llerena JR; Dafne Dain Gandelman HOROVITZ; Maria Auxiliadora VILLAR; Aline Teixeira Da COSTA; Maria Angelica F D LIMA et al Steps Forward in Pompe Disease 2nd European Symposium	HS Genetics (clinical)

2009 Artigo em periódico

HS Genetics (clinical)

Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis

Molecular Genetics and Metabolism

Muñoz Rojas María VERÓNICA; Dafne Dain Gandelman HOROVITZ; Jardim Laura BANNACH; Raymundo MARCIA; Llerena Jr Juan CLINTON et al

DOI ISSN 1096-7192

2008 Artigo em periódico

HS Genetics (clinical)

Initial report from the Hunter Outcome Survey

Genetics in Medicine

Wraith J EDMOND; Beck MICHAEL; Giugliani ROBERTO; Clarke JOE; Martin RICK et al

DOI ISSN 1098-3600

2008 Artigo em periódico

HS Genetics (clinical)

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

European Journal of Human Genetics

Huber CÉLINE; Delezoide Anee LISE; Guimiot FABIEN; Baumann CLARISSE; Malan VALÉRIE et al

DOI ISSN 1018-4813

2008 Artigo em periódico

HS Genetics (clinical)

Preliminary data of Enzyme Replacement Therapy in MPS patients under 3 years-old

Journal of Inherited Metabolic Disease

Marcelo KERSTENESTZKY; Erlane RIBEIRO; Dafne Dain Gandelman HOROVITZ; Juan Clinton Llerena JR; Chong Ae KIM et al

ISSN 0141-8955

2007 Trabalho em evento

HS Medicine (miscellaneous)

Enzyme Replacement Therapy with recombinant acid alpha-glucosidase in early onset Pompe disease

The International Congress of Genetics in Pediatrics

Juan Clinton Llerena JR; Maria Angelica F D LIMA; Maria Auxiliadora VILLAR; Anna Claudia Evangelista Dos SANTOS; Aline Teixeira Da COSTA et al

2007 Trabalho em evento

HS Medicine (miscellaneous)

Treating Osteogenesis Imperfecta and MPS-I

The International Congress of Genetics in Pediatrics

Juan Clinton Llerena JR; Cecilia Oliveira BARBOSA; Maria Auxiliadora VILLAR; Anna Claudia Evangelista Dos SANTOS; Aline Teixeira Da COSTA et al

2007 Trabalho em evento

HS Genetics (clinical)

Enzyme Replacement Therapy in 2 patients with early-onset Pompe Disease

Annual Clinical Genetics Meeting - American College of Medical Genetics

Dafne Dain Gandelman HOROVITZ; Juan Clinton Llerena JR; Maria Auxiliadora VILLAR; Anna Claudia Evangelista Dos SANTOS; Maria Angelica F D LIMA et al

2007 Trabalho em evento

HS Genetics (clinical)

Floating-Harbor Syndrome: A Case Report

Annual Clinical Genetics Meeting - American College of Medical Genetics

Anna Claudia Evangelista Dos SANTOS; Maria Auxiliadora VILLAR; Aline Teixeira Da COSTA; Tatiana MAGALHÃES; Maria Angelica F D LIMA et al

2007 Trabalho em evento

HS Genetics (clinical)

Pamidronate Dissodium (PD) Treatment Beguinning in the Neonatal Period: Preliminary Results in 5 Osteogenesis Imperfecta (OI) Patients

Annual Clinical Genetics Meeting - American College of Medical Genetics

Maria Angelica F D LIMA; Cecilia Oliveira BARBOSA; Anna Claudia Evangelista Dos SANTOS; Maria Auxiliadora VILLAR; Aline Teixeira Da COSTA et al

2007 Trabalho em evento

HS Medicine (miscellaneous)

Congenital Central Hypoventilation and Hirschprung's Disease: A Case Report of Haddad Syndrome

Annual Clinical Genetics Meeting - American College of Medical Genetics

Maria Auxiliadora VILLAR; Maria Angelica F D LIMA; Anna Claudia Evangelista Dos SANTOS; Aline Teixeira Da COSTA; Tatiana MAGALHÃES et al

2007 Trabalho em evento

HS Genetics (clinical)

Osteogenesis Imperfecta Treatment with Bisphosphonates in Rio de Janeiro - Brazil

Annual Clinical Genetics Meeting - American College of Medical Genetics

Cecilia Oliveira BARBOSA; Anna Claudia Evangelista Dos SANTOS; Maria Auxiliadora VILLAR; Aline Teixeira Da COSTA; Maria Angelica F D LIMA et al

2007 Trabalho em evento

LS Neurology

Discussion on undiagnosed case: ocular anomalies; scoliosis; marfanoid habitus; coagulation disorder and consanguinity: autosomal recessive collagen defect?