Abstract A mother and son with bilateral branchial sinuses, intrauterine and postnatal growth retardation, unusual facial appearance, and premature aging in the mother are
[doi.org]
Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging and unusual facial appearance: a new syndrome with dominant
[doi.org]
Our long-term observations include hypernasal speech with mild conductive hear- ing loss, postnatal growth retardation with mild short stature, and normal intelligence.
[documents.tips]
CASE/METHOD: A young male presented with postnatal growth retardation (-4.0 height SDS).
[ncbi.nlm.nih.gov]
IGF1R mutations have been associated with varying degrees of intrauterine and postnatal growth retardation.
[ncbi.nlm.nih.gov]
IGF-IR gene anomalies presenting with intrauterine and postnatal growth retardation have recently been reported in some families.
[ncbi.nlm.nih.gov]
A case of partial IGF-I deficiency has also been described and was associated with pre- and postnatal growth retardation and microcephaly but the developmental delay was mild
[orpha.net]
retardation Severe prenatal growth deficiency 0008846 Severe postnatal growth retardation Marked growth retardation Severe growth delay in children Severe postnatal growth
[rarediseases.info.nih.gov]
Disease definition Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels.
[orpha.net]
It is characterized by a dysmorphic face, postnatal growth retardation, skeletal abnormalities, mental retardation, and unusual dermatoglyphic patterns.
[ncbi.nlm.nih.gov]
There is multisystem involvement of anomalies, including 1) unique facial features, 2) postnatal growth retardation, 3) mild-to-moderate mental retardation, 4) skeletal anomalies
[ncbi.nlm.nih.gov]
Kabuki syndrome is a rare multiple anomaly syndrome characterized by a peculiar face, skeletal and dermatoglyphic anomalies, postnatal growth retardation and mental retardation
[ncbi.nlm.nih.gov]
Russell-Silver syndrome (RSS) is a heterogeneous disorder characterized mainly by pre- and postnatal growth retardation and characteristic dysmorphic features.
[ncbi.nlm.nih.gov]
All 11 individuals had intrauterine and postnatal growth retardation. In addition, most showed mandibular retrognathia and relative macrocephaly.
[ncbi.nlm.nih.gov]
Russell-Silver syndrome (RSS) should be suspected in patients with prenatal and postnatal growth retardation.
[ncbi.nlm.nih.gov]
The classic features of the MPD group are severe pre- and postnatal growth retardation, with marked microcephaly.
[ncbi.nlm.nih.gov]
Microcephalic osteodysplastic primordial dwarfism type II is a specific disorder characterized by severe intrauterine and postnatal growth retardation, acquired microcephaly
[ncbi.nlm.nih.gov]
Dubowitz syndrome is an autosomal recessive condition characterized by pre- and postnatal growth retardation, eczema, telecanthus, epicanthal folds, blepharophimosis, ptosis
[ncbi.nlm.nih.gov]
Dubowitz syndrome is a rare autosomal recessive disorder characterized by intrauterine and postnatal growth retardation, microcephaly, moderate mental retardation, typical
[ncbi.nlm.nih.gov]
The Dubowitz syndrome is an autosomal recessive condition of intrauterine growth retardation, postnatal growth retardation, microcephaly, characteristic facial appearance,
[ncbi.nlm.nih.gov]
A boy presented at 5 weeks with a syndrome of pre- and postnatal growth retardation, microcephaly, muscular hypotonia, and facial anomalies resembling those seen in Seckel
[ncbi.nlm.nih.gov]
and postnatal growth retardation, 2) microcephaly with mental retardation, and 3) specific dysmorphic features.
[ncbi.nlm.nih.gov]
‐ and postnatal growth retardation, 2) microcephaly with mental retardation, and 3) specific dysmorphic features.
[onlinelibrary.wiley.com]
growth retardation preterm infants View Full Text Statistics from Altmetric.com postnatal growth retardation preterm infants Impaired fetal and postnatal growth in term infants
[fn.bmj.com]
Background: Previous data from this unit suggest that postnatal growth retardation (PGR) is inevitable in preterm infants.
[ncbi.nlm.nih.gov]
growth retardation of unknown cause even in the absence of a SMC.
[ncbi.nlm.nih.gov]
Definition An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence
[uniprot.org]
The 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in the CUL7 gene and characterized by severe pre- and postnatal growth retardation.
[ncbi.nlm.nih.gov]
Abstract The 3M syndrome is a rare autosomal recessive disorder recently ascribed to mutations in the CUL7 gene and characterized by severe pre- and postnatal growth retardation
[ncbi.nlm.nih.gov]
It is characterized by congenital hypoparathyroidism, severe prenatal and postnatal growth retardation, and distinct facial dysmorphism.
[ncbi.nlm.nih.gov]
It is characterized by congenital hypoparathyroidism, severe prenatal and postnatal growth retardation, dysmorphic features, as well as mild to severe mental retardation.
[ingentaconnect.com]
Sanjad Congenital hypoparathyroidism associated with severe prenatal and postnatal growth retardation and a pattern of facial anomalies.
[whonamedit.com]
growth retardation, short stature, cortical thickening and medullary stenosis of the long bones, absent diploic space in the skull bones, hypocalcemia due to the hypoparathyroidism
[malacards.org]
Orpha Number: 93324 Disease definition A rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary
[rarediseases.info.nih.gov]
European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93324Disease definitionA rare, primary bone dysplasia characterized by prenatal and postnatal
[malacards.org]
A case of partial IGF-I deficiency has also been described and was associated with pre- and postnatal growth retardation and microcephaly but the developmental delay was mild
[orpha.net]
[…] of the IGF-I gene (IGF-I knockout mice) have profound embryonic and postnatal growth retardation. 5-7 Although there is no direct evidence that IGF-I has a prominent role
[nejm.org]
severe postnatal growth retardation, short stature, skeletal abnormalities and an unusually small head size and blood vessel abnormalities; A number of affected individuals
[oatext.com]
DS is characterized by pre- and postnatal growth retardation with failure to thrive, lipoatrophy, muscle wasting, acanthosis nigricans, hypertrichosis, and dysmorphic features
[ncbi.nlm.nih.gov]
Donohue syndrome (DS), a rare autosomal recessive disease which represents severe insulin resistance, pre- and postnatal growth retardation, hypertrichosis, and dysmorphic
[ncbi.nlm.nih.gov]
DS is characterized by pre- and postnatal growth retardation with failure-to-thrive, lipoatrophy, acanthosis nigricans, hypertrichosis, and dysmorphic features.
[ncbi.nlm.nih.gov]
and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities.
[uniprot.org]
‐ and postnatal growth retardation, delayed motor development, cutis laxa, delayed closure of large fontanels, congenital hip dislocation and characteristic facies, is described
[onlinelibrary.wiley.com]
[…] syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre
[uniprot.org]
Costello syndrome is a mental retardation syndrome characterized by high birth weight, postnatal growth retardation, coarse face, loose skin, cardiovascular problems, and
[ncbi.nlm.nih.gov]
The typical clinical traits include dysmorphic craniofacial features, skin hyperpigmentation and excess, feeding difficulties leading to severe postnatal growth retardation
[ncbi.nlm.nih.gov]
Costello syndrome is a rare developmental disorder characterized by coarse face, postnatal growth retardation, skin and musculoskeletal anomalies, cardiovascular abnormalities
[ncbi.nlm.nih.gov]
Affected individuals exhibit intrauterine and postnatal growth retardation, leading to short stature and an aged appearance from birth.
[en.wikipedia.org]
Characterized by an aged appearance at birth, prenatal and postnatal growth retardation, and subcutaneous lipoatrophy with abnormal deposits of fat around the buttocks, the
[accessanesthesiology.mhmedical.com]
growth retardation, leading to short stature and an aged appearance from birth.
[medbox.iiab.me]
growth retardation Growth delay as children 0008897 Ptosis Drooping upper eyelid 0000508 Recurrent infections Frequent infections Frequent, severe infections Increased frequency
[rarediseases.info.nih.gov]
Abstract Developmental delay/intellectual disabilities, speech disturbance, pre- and postnatal growth retardation, microcephaly, signs of ectodermal dysplasia, and genital
[nature.com]
There are very few cases reported with this deletion, but clinically this condition seems to be recognizable by pre and postnatal growth retardation, microcephaly, developmental
[link.springer.com]
growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0008897 21 bicuspid aortic valve 60 33 frequent (33%) Frequent (79-30%) HP:0001647 22 coarctation of aorta 60
[malacards.org]
retardation and postnatal growth failure.
[humpath.com]
retardation and postnatal catch-up growth failure.
[emedicine.medscape.com]
Roifman syndrome (OMIM 300258) is a multi-system disorder with a physical phenotype that includes Beta-cell immunodeficiency, intra-uterine and postnatal growth retardation
[ncbi.nlm.nih.gov]
BACKGROUND: Roifman syndrome ( OMIM 300258) is a multi-system disorder with a physical phenotype that includes Beta-cell immunodeficiency, intra-uterine and postnatal growth
[wikigenes.org]
INTRODUCTION Roifman Syndrome (RFMN) is a rare multisystem disorder characterized by pre‐ and postnatal growth retardation, microcephaly, and distinctive facial features,
[ncbi.nlm.nih.gov]
The Rubinstein-Taybi syndrome (RTS; OMIM 180849) is a well-defined mental retardation/multiple congenital anomalies (MR/MCA) syndrome characterized by postnatal growth retardation
[ncbi.nlm.nih.gov]
Rubinstein-Taybi syndrome is a rare autosomal dominant congenital disorder characterized by postnatal growth retardation, psychomotor developmental delay, skeletal anomalies
[ncbi.nlm.nih.gov]
RSTS is characterized by typical facial features, microcephaly, broad thumbs and first toes, intellectual disability, and postnatal growth retardation.
[ncbi.nlm.nih.gov]
Symptoms INHERITANCE: Autosomal recessive GROWTH: [Height]; Short stature, moderate; [Weight]; Birthweight at or below 3rd centile; [Other]; Growth retardation, postnatal
[findzebra.com]
retardation and postnatal catch-up growth failure.
[emedicine.medscape.com]
Recently, a boy was presented with a partial IGF-I deficiency due to a homozygous missense mutation of the IGF-I gene, resulting in pre- and postnatal growth retardation,
[karger.com]
The Wolf-Hirschhorn syndrome (WHS) is characterized by severe pre- and postnatal growth retardation, specific pattern of dysmorphisms, and severe developmental delay.
[ncbi.nlm.nih.gov]
Characteristics include marked prenatal and postnatal growth retardation with psychomotor delay, profound mental deficiency, distinctive facies, and midline defects.
[ncbi.nlm.nih.gov]
Wolf-Hirschhorn syndrome (WHS) is a well-known genetic condition characterized by typical facial anomalies, midline defects, skeletal anomalies, prenatal and postnatal growth
[ncbi.nlm.nih.gov]
The patient was diagnosed as having Cornelia de Lange syndrome on the recognition of distinctive facial features in addition to the pre- and postnatal growth retardation,
[ncbi.nlm.nih.gov]
It is characterized by intellectual disability (mild to severe), distinctive facial features, prenatal and postnatal growth retardation, and hirsutism.
[ncbi.nlm.nih.gov]
growth retardation, mental retardation and, in many cases, upper limb anomalies.
[flybase.org]
Other clinical findings were pre- and postnatal growth retardation, microcephaly, dysmorphism of ears, fingers and feet.
[ncbi.nlm.nih.gov]
One was a stillborn child with several malformations, and the other two cases showed pre- and postnatal growth retardation and developmental delay, common features for ring
[ncbi.nlm.nih.gov]
Other clinical findings were pre- and postnatal growth retardation, micro- cephaly, dysmorphism of ears, fingers and feet.
[docslide.com.br]
growth retardation, severe psychomotor retardation, cerebral and cerebellar degeneration with calcification in basal ganglia and white matter, progressive joint contractures
[medlink.com]
They also exhibit a predominantly postnatal growth failure, a severe psychomotor retardation, with axial hypotonia and peripheral hypertonia and neonatal feeding difficulties
[ncbi.nlm.nih.gov]
growth retardation, severe psychomotor retardation, microcephaly with cerebral and cerebellar degeneration and calcification in basal ganglia and white matter, arthrogryposis
[medlink.com]
The index patient displayed craniofacial dysmorphisms, mild mental retardation and postnatal growth retardation, muscular hypotonia, mild periventricular leukodystrophy, patent
[ncbi.nlm.nih.gov]
Clinical description The most common clinical features include pre- and postnatal growth retardation, psychomotor retardation, and a characteristic facial dysmorphism (skull
[orpha.net]
growth retardation Growth delay as children 0008897 Showing of 31 Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals
[rarediseases.info.nih.gov]
growth retardation 33 HP:0008897 26 chorioretinal coloboma 33 HP:0000567 27 abnormality of the face 60 Very frequent (99-80%) 28 abnormal hair pattern 60 Very frequent (99
[malacards.org]
[…] facial appearance 0000280 Male pseudohermaphroditism 0000037 Narrow palpebral fissure Small opening between the eyelids 0045025 Obesity Having too much body fat 0001513 Postnatal
[rarediseases.info.nih.gov]
and postnatal growth retardation.
[ncbi.nlm.nih.gov]
[…] and postnatal growth retardation. [1] [2] Other symptoms include transient hypothyroidism, macular degeneration and torticollis. [3] The condition was discovered in 1987
[en.wikipedia.org]
[…] syndrome is a rare congenital disorder, characterized by congenital hypothyroidism, congenital heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation
[ncbi.nlm.nih.gov]
growth retardation Short limbs, hand and feet Perinatal complications due to connective tissue fragility Minor criteria Soft and doughy skin texture Skin hyperextensibility
[edstoday.org]
growth retardation Short limbs, hand and feet Perinatal complications secondary to connective tissue fragility Minor criteria: Doughy and soft skin texture Hyperextensibility
[xpertdox.com]
[…] with excessive skin folds at the wrists and ankles Increased palmar wrinkling Severe bruisability with a risk of subcutaneous hematomas and haemorrhage Umbilical hernia Postnatal
[edstoday.org]
