Results 161 to 170 of about 4,210 (197)
Constructed growth charts and nutrition for pontocerebellar hypoplasia type 2A
Developmental Medicine &Child Neurology, EarlyView.To our knowledge, we are the first to provide constructed disease‐specific growth charts for PCH2A (age 0–18 years). Constructed growth charts (0–2 years) for height, weight, body mass index, and head circumference are compared in a sex‐disaggregated manner to typically developing children. Failure to thrive is evident despite normal caloric intake and
Alice Kuhn +9 more
wiley +1 more source
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Edwin Cuperus +7 more
wiley +1 more source
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Clinical Orthopaedics and Related Research, 1977
Fibular hypoplasia occurs in differing degrees of severity with fibular hemimelia as its most severe form. Normally the distal epiphyseal plate of the fibula is at the same level as the distal end of the distal tibial epiphysis, whereas the tip of the proximal fibular epiphysis is level with the proximal tibial epiphyseal plate.
Leon Root, Walther H.O. Bohne
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Fibular hypoplasia occurs in differing degrees of severity with fibular hemimelia as its most severe form. Normally the distal epiphyseal plate of the fibula is at the same level as the distal end of the distal tibial epiphysis, whereas the tip of the proximal fibular epiphysis is level with the proximal tibial epiphyseal plate.
Leon Root, Walther H.O. Bohne
openaire +3 more sources
Journal of Craniofacial Surgery, 2009
Asymmetric velopharyngeal incompetence (VPI) has a diverse etiology, but those without any underlying cleft, hemifacial microsomia (HFM), or facial asymmetry are rarely encountered. Such cases have been reported within the last few years, with unilateral velopharyngeal hypoplasia identified to be the underlying abnormality in these patients.
Ying-Chien, Tan, Philip Kuo-Ting, Chen
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Asymmetric velopharyngeal incompetence (VPI) has a diverse etiology, but those without any underlying cleft, hemifacial microsomia (HFM), or facial asymmetry are rarely encountered. Such cases have been reported within the last few years, with unilateral velopharyngeal hypoplasia identified to be the underlying abnormality in these patients.
Ying-Chien, Tan, Philip Kuo-Ting, Chen
openaire +2 more sources
The Neuroradiology Journal, 2012
A rare case of segmental hypoplasia of the basilar artery is described in a 49-year-old man with transient vertebrobasilar ischemia, explored by magnetic resonance imaging (MRI) and digital angiography (DA). The embryology, clinical relevance and magnetic resonance findings of this arterial anomaly are discussed, with a review of six previously ...
CARANCI, Ferdinando +5 more
openaire +6 more sources
A rare case of segmental hypoplasia of the basilar artery is described in a 49-year-old man with transient vertebrobasilar ischemia, explored by magnetic resonance imaging (MRI) and digital angiography (DA). The embryology, clinical relevance and magnetic resonance findings of this arterial anomaly are discussed, with a review of six previously ...
CARANCI, Ferdinando +5 more
openaire +6 more sources
European Respiratory Journal, 1991
Lung tissue developmental abnormalities are seldom reported. According to the classification of Schneider (1900), which was amended by Boyden (1955), they include pulmonary agenesis, aplasia and hypoplasia. Due to the early onset of symptoms, lung agenesis and aplasia are usually detected soon after birth.
C, Della Pona +5 more
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Lung tissue developmental abnormalities are seldom reported. According to the classification of Schneider (1900), which was amended by Boyden (1955), they include pulmonary agenesis, aplasia and hypoplasia. Due to the early onset of symptoms, lung agenesis and aplasia are usually detected soon after birth.
C, Della Pona +5 more
openaire +2 more sources
The Journal of Hand Surgery, 2013
Thumb hypoplasia, congenital underdevelopment of the thumb, can range from a slight decrease in thumb size to complete absence of the thumb. As part of the radial longitudinal deficiency spectrum, other organ systems may be affected as well. Hence, the global health of the child should be addressed before focusing on the thumb.
Francisco, Soldado +2 more
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Thumb hypoplasia, congenital underdevelopment of the thumb, can range from a slight decrease in thumb size to complete absence of the thumb. As part of the radial longitudinal deficiency spectrum, other organ systems may be affected as well. Hence, the global health of the child should be addressed before focusing on the thumb.
Francisco, Soldado +2 more
openaire +2 more sources
The British Journal of Radiology, 1957
A case of hypoplasia of the left lung is described in a healthy girl of 14. The diagnosis can be made by bronchography and fluoroscopy in most cases, but films to demonstrate the spine and occasionally bronchoscopy can be helpful. Angiocardiography has a part to play in the diagnosis of associated cardiac abnormalities, but the results may be ...
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A case of hypoplasia of the left lung is described in a healthy girl of 14. The diagnosis can be made by bronchography and fluoroscopy in most cases, but films to demonstrate the spine and occasionally bronchoscopy can be helpful. Angiocardiography has a part to play in the diagnosis of associated cardiac abnormalities, but the results may be ...
openaire +3 more sources
The Journal of Hand Surgery, 2009
Hypoplasia of the thumb refers to a spectrum of clinical abnormalities ranging from a slightly small digit to complete absence (or aplasia) of the thumb unit. As a component of radial dysplasia, thumb hypoplasia can be either an isolated entity or seen in conjunction with other elements of radial longitudinal deficiency.
Scott A, Riley, Ronald C, Burgess
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Hypoplasia of the thumb refers to a spectrum of clinical abnormalities ranging from a slightly small digit to complete absence (or aplasia) of the thumb unit. As a component of radial dysplasia, thumb hypoplasia can be either an isolated entity or seen in conjunction with other elements of radial longitudinal deficiency.
Scott A, Riley, Ronald C, Burgess
openaire +2 more sources
Endocrinology and Metabolism Clinics of North America, 2017
This article summarizes pituitary development and function as well as specific mutations of genes encoding the following transcription factors: HESX1, LHX3, LHX4, POU1F1, PROP1, and OTX2. Although several additional genetic defects related to hypopituitarism have been identified, this article focuses on these selected factors, as they have been well ...
Mariam, Gangat, Sally, Radovick
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This article summarizes pituitary development and function as well as specific mutations of genes encoding the following transcription factors: HESX1, LHX3, LHX4, POU1F1, PROP1, and OTX2. Although several additional genetic defects related to hypopituitarism have been identified, this article focuses on these selected factors, as they have been well ...
Mariam, Gangat, Sally, Radovick
openaire +2 more sources