UNKNOWN SYNDROME - MENTAL-RETARDATION WITH DYSMORPHIC FEATURES, EARLY BALDING, PATELLA LUXATIONS, ACROMICRIA, AND HYPOGONADISM

Horn, D.
Schottmann, G.
Meinecke, P.

March 2010

The association of mental retardation and persistent hyperphosphatasia has been described in rare in...

Facial Dysmorphism, Mental Retardation, Triphalangeal Toes and Unilateral Renal Agenesis: A New Syndrome

Al-Mosawi,Aamir

September 2019

Al-Mosawi AJ. Facial Dysmorphism, Mental Retardation, Triphalangeal Toes and Unilateral Renal Agene...

Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: A new syndrome

Schinzel, Albert
Schmid, W

January 1980

Two unrelated patients, a 4-year-old boy and a 2 1/2-year-old girl, presented with a similar pattern...

UNKNOWN SYNDROME - MENTAL-RETARDATION WITH DYSMORPHIC FEATURES, EARLY BALDING, PATELLA LUXATIONS, ACROMICRIA, AND HYPOGONADISM

SCHOLTE, FA
BEGEER, JH
VANESSEN, AJ

February 1991

A patient is described with severe mental retardation, a peculiar face with small palpebral fissures...

A NEW SYNDROME PRESENTING WITH DYSMORPHIC FACIES, OCULOCUTANEOUS ALBINISM, GLAUCOMA, CRYPTORCHIDISM AND MENTAL RETARDATION

Guven, G.
Yılmaz, Şafak
Yuksel, A.
Yosunkaya, E.
Karaca, E.
Seven, Mehmet

January 2011

A new syndrome presenting with dysmorphic facies, oculocutaneous albinism, glaucoma, cryptorchidism ...

Mental Retardation with Blepharo-Naso-Facial Abnormalities and Hand Malformations: A New Syndrome?

Van Maldergem, Lionel
Wetzburger, C.
Verloes, Alain
Fourneau, C.
Gillerot, Y.

January 1992

A syndrome involving facial abnormalities (telecanthus, epicanthus, broad flattened nose, large inve...

Unknown Syndrome: Abnormal Facies, Hypothyroidism, Postaxial Polydactyly, And Severe Retardation: A Third Patient.

Cavalcanti, D P

November 2015

Young and Simpson in 1987 and Fryns and Moerman in 1988 each reported a case of a new unknown syndro...

Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome?

Schinzel, Albert

May 1979

A male patient presented with a pattern of congenital malformations including macrocephaly, absence ...

Unknown syndrome:

September 2016

abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient SUMM...

Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females.

Poyhonen, M.
Peippo, M.
Valanne, L.
Kuokkanen, K.
Koskela, S.
Bartsch, O.
Rasi, S.
Wiebe, G.
Kahkonen, M.
Kaariainen, H.

January 2004

We report three unrelated patients with hypertrichosis, mild to moderate mental retardation, and dys...

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

Verloes, A.
Bremond-Gignac, D
Isidor, B.
David, A.
Baumann, C.
Leroy, M.A.
Stevens, R.
Gillerot, Y.
Heron, D.
Heron, B.
Benzacken, B.
Lacombe, D.
Brunner, H.G.
Bitoun, P.

January 2006

Item does not contain fulltextWe report on 11 patients from 8 families with a blepharophimosis and m...

Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - New findings with neuroimaging

Szakszon,, K
Ber??nyi, E
Jakab, A
Bessenyei, B
Balogh, E
K??bling, T
Szilv?íssy, J
Knegt, A.C
Ol?íh, ?ë

June 2011

We report on a female patient with blepharophimosis mental retardation syndrome of Say/Barber/Biesec...

Dysmorphology short reports Unknown syndrome: abnormal

January 1987

severe retardation: a second patient SUMMARY In the November 1987 issue of this journal, Young and S...

Digital and Dental Malformation and Short Stature in a Patient with Neurological Problems: A Variant of the Oculodentodigital Dysplasia Syndrome or a New Syndrome?

Habibe Nezhad
Bieglari Md
Mohammad Reza
Alaee Md

August 2016

Several syndromes have been recognized with digital abnormality and CNS involvement such as oculoden...

Mental-Growth Retardation, Microphthalmia, Microcornea, Iris and Uvea Colobomata, Transient Ocular Hypopigmentation, and Contralateral Optic Disc Colobomata, and Dilated Third Ventricle: A New Syndrome

Al-Mosawi,Aamir

September 2019

Al-Mosawi AJ. Mental-Growth Retardation, Microphthalmia, Microcornea, Iris and Uvea Colobomata, Tran...

Eur J Med Genet

Horn, D.
Schottmann, G.
Meinecke, P.

March 2010

The association of mental retardation and persistent hyperphosphatasia has been described in rare in...

Facial Dysmorphism, Mental Retardation, Triphalangeal Toes and Unilateral Renal Agenesis: A New Syndrome

Al-Mosawi,Aamir

September 2019

Al-Mosawi AJ. Facial Dysmorphism, Mental Retardation, Triphalangeal Toes and Unilateral Renal Agene...

Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: A new syndrome

Schinzel, Albert
Schmid, W

January 1980

Two unrelated patients, a 4-year-old boy and a 2 1/2-year-old girl, presented with a similar pattern...

UNKNOWN SYNDROME - MENTAL-RETARDATION WITH DYSMORPHIC FEATURES, EARLY BALDING, PATELLA LUXATIONS, ACROMICRIA, AND HYPOGONADISM

SCHOLTE, FA
BEGEER, JH
VANESSEN, AJ

February 1991

A patient is described with severe mental retardation, a peculiar face with small palpebral fissures...

A NEW SYNDROME PRESENTING WITH DYSMORPHIC FACIES, OCULOCUTANEOUS ALBINISM, GLAUCOMA, CRYPTORCHIDISM AND MENTAL RETARDATION

Guven, G.
Yılmaz, Şafak
Yuksel, A.
Yosunkaya, E.
Karaca, E.
Seven, Mehmet

January 2011

A new syndrome presenting with dysmorphic facies, oculocutaneous albinism, glaucoma, cryptorchidism ...

Mental Retardation with Blepharo-Naso-Facial Abnormalities and Hand Malformations: A New Syndrome?

Van Maldergem, Lionel
Wetzburger, C.
Verloes, Alain
Fourneau, C.
Gillerot, Y.

January 1992

A syndrome involving facial abnormalities (telecanthus, epicanthus, broad flattened nose, large inve...

Unknown Syndrome: Abnormal Facies, Hypothyroidism, Postaxial Polydactyly, And Severe Retardation: A Third Patient.

Cavalcanti, D P

November 2015

Young and Simpson in 1987 and Fryns and Moerman in 1988 each reported a case of a new unknown syndro...

Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome?

Schinzel, Albert

May 1979

A male patient presented with a pattern of congenital malformations including macrocephaly, absence ...

Unknown syndrome:

September 2016

abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient SUMM...

Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females.

Poyhonen, M.
Peippo, M.
Valanne, L.
Kuokkanen, K.
Koskela, S.
Bartsch, O.
Rasi, S.
Wiebe, G.
Kahkonen, M.
Kaariainen, H.

January 2004

We report three unrelated patients with hypertrichosis, mild to moderate mental retardation, and dys...

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

Verloes, A.
Bremond-Gignac, D
Isidor, B.
David, A.
Baumann, C.
Leroy, M.A.
Stevens, R.
Gillerot, Y.
Heron, D.
Heron, B.
Benzacken, B.
Lacombe, D.
Brunner, H.G.
Bitoun, P.

January 2006

Item does not contain fulltextWe report on 11 patients from 8 families with a blepharophimosis and m...

Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - New findings with neuroimaging

Szakszon,, K
Ber??nyi, E
Jakab, A
Bessenyei, B
Balogh, E
K??bling, T
Szilv?íssy, J
Knegt, A.C
Ol?íh, ?ë

June 2011

We report on a female patient with blepharophimosis mental retardation syndrome of Say/Barber/Biesec...

Dysmorphology short reports Unknown syndrome: abnormal

January 1987

severe retardation: a second patient SUMMARY In the November 1987 issue of this journal, Young and S...

Digital and Dental Malformation and Short Stature in a Patient with Neurological Problems: A Variant of the Oculodentodigital Dysplasia Syndrome or a New Syndrome?

Habibe Nezhad
Bieglari Md
Mohammad Reza
Alaee Md

August 2016

Several syndromes have been recognized with digital abnormality and CNS involvement such as oculoden...

Mental-Growth Retardation, Microphthalmia, Microcornea, Iris and Uvea Colobomata, Transient Ocular Hypopigmentation, and Contralateral Optic Disc Colobomata, and Dilated Third Ventricle: A New Syndrome

Al-Mosawi,Aamir

September 2019

Al-Mosawi AJ. Mental-Growth Retardation, Microphthalmia, Microcornea, Iris and Uvea Colobomata, Tran...

Eur J Med Genet

Horn, D.
Schottmann, G.
Meinecke, P.

March 2010

The association of mental retardation and persistent hyperphosphatasia has been described in rare in...

Facial Dysmorphism, Mental Retardation, Triphalangeal Toes and Unilateral Renal Agenesis: A New Syndrome

Al-Mosawi,Aamir

September 2019

Al-Mosawi AJ. Facial Dysmorphism, Mental Retardation, Triphalangeal Toes and Unilateral Renal Agene...

Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: A new syndrome

Schinzel, Albert
Schmid, W

January 1980

Two unrelated patients, a 4-year-old boy and a 2 1/2-year-old girl, presented with a similar pattern...

UNKNOWN SYNDROME - MENTAL-RETARDATION WITH DYSMORPHIC FEATURES, EARLY BALDING, PATELLA LUXATIONS, ACROMICRIA, AND HYPOGONADISM

Abstract

Extracted data

UNKNOWN SYNDROME - MENTAL-RETARDATION WITH DYSMORPHIC FEATURES, EARLY BALDING, PATELLA LUXATIONS, ACROMICRIA, AND HYPOGONADISM

Abstract

Extracted data

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