A Case of Robinow Syndrome Accompanied by Partial Growth Hormone Insufficiency Treated with Growth Hormone

Kawai, Masahiko; Yorifuji, Tohru; Yamanaka, Chutaro; Sasaki, Hiroshi; Momoi, T; Furusho, Kenshi

doi:10.1159/000185369

Cited by 8 publications

(3 citation statements)

References 10 publications

(11 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…His bone age at diagnosis was not significantly retarded in comparison to his chronological age, similar to other genetic syndromes accompanied by GH deficiency, such as Robinow syndrome 6 . He is the first patient with cerebrofaciothoracic dysplasia presenting GH deficiency, as already reported 5 .…”

Section: Discussionsupporting

confidence: 57%

Two Years of Growth Hormone Treatment in the First Growth Hormone Deficient Patient with Cerebrofaciothoracic Dysplasia

Kanaka‐Gantenbein¹,

Fryssira²,

Kakavakis³

et al. 2006

Journal of Pediatric Endocrinology and Metabolism

View full text Add to dashboard Cite

We recently reported two siblings, a sister and a brother, with intrauterine growth retardation, microcephaly, short stature, mental retardation, facial dysmorphism and multiple costovertebral malformations. These features fit most with the diagnosis of cerebrofaciothoracic dysplasia, or Pascual-Castroviejo syndrome. The second sibling, our index patient, presented also with cleft palate and growth hormone (GH) deficiency, suggesting that endocrinological assessment should be performed in short patients with this syndrome, especially if midline defects are present. We present the results of 2 years GH treatment of this first GH deficient patient with cerebrofaciothoracic syndrome and compare the results to those observed in other genetic syndromes with GH deficiency.

show abstract

Section: Discussionsupporting

confidence: 57%

Two Years of Growth Hormone Treatment in the First Growth Hormone Deficient Patient with Cerebrofaciothoracic Dysplasia

Kanaka‐Gantenbein¹,

Fryssira²,

Kakavakis³

et al. 2006

Journal of Pediatric Endocrinology and Metabolism

View full text Add to dashboard Cite

show abstract

“…Eventually, at an optimal age after growth has been achieved, he will need surgical intervention in the form of anterior bone graft and posterior hook and rod system to achieve an anterior and posterior arthrodesis. Kawai et al 2 reported on a 10 year-old girl with Robinow syndrome with GH deficiency who also had a remarkable improvement in her growth velocity during replacement therapy with GH. Therapy had to be discontinued for some time in VOLUME 12, NO.…”

Section: Journal Of Pediatric Endocrinology and Metabolismmentioning

confidence: 99%

Robinow Syndrome with Growth Hormone Deficiency: Treatment with Growth Hormone

Castells¹,

Chakurkar²,

Qazi³

et al. 1999

Journal of Pediatric Endocrinology and Metabolism

View full text Add to dashboard Cite

We describe a 5 years and nine months old boy who presented with facial features, vertebral anomalies and dwarfism consistent with Robinow syndrome. Investigations revealed growth hormone (GH) deficiency to be the cause of his dwarfism. We reviewed data on four other patients with Robinow syndrome from the Genentech National Cooperative Growth Study (NCGS). Results of GH testing on three out of four were available and showed GH deficiency. Recombinant human GH therapy in our patient and the three patients from the NCGS resulted in a significant increase in the growth rate per year. The cause of dwarfism in children with Robinow syndrome has hitherto not been studied. We propose its association with GH deficiency and that treatment with rhGH can result in a significant increase in the growth rate of these children.

show abstract

“…He started growth hormone replacement at 4 years and consistently improved, reaching the 44 th percentile in height (Figure 4). To date, his height is 155.6 cm (-0.14 SDS) 2,6,9,12,17 . The patient's last bone age reported was 13.16 (Greulich & Pyle), with a chronological age of 12.6 years.…”

Section: Treatmentmentioning

confidence: 99%

Robinow syndrome and its response to growth hormone treatment: a case report and review of the literature

Goitia-Cárdenas¹,

Azotla-Vilchis²,

Miranda-Lora³

2023

BMHIM

View full text Add to dashboard Cite

Background: Robinow syndrome is a rare disease with short stature, characteristic phenotypical abnormalities, and intellectual integrity in most cases. Case report: We present the case of a 13-year and one-month-old male who came for medical consultation at 3 years of age due to short stature. Additionally, the patient showed craniofacial dysmorphia, congenital heart disease, and growth hormone deficiency. As per family history, the mother presented the same phenotype. The genetic study identified an unreported variant of the WNT5A gene. Conclusions: The patient initiated growth hormone treatment at a dose of 0.7 U/kg/week at 4 years of age with favorable results, increasing his height from the < 1 st percentile to the 44 th percentile.

show abstract

A Case of Robinow Syndrome Accompanied by Partial Growth Hormone Insufficiency Treated with Growth Hormone

Cited by 8 publications

References 10 publications

Two Years of Growth Hormone Treatment in the First Growth Hormone Deficient Patient with Cerebrofaciothoracic Dysplasia

Two Years of Growth Hormone Treatment in the First Growth Hormone Deficient Patient with Cerebrofaciothoracic Dysplasia

Robinow Syndrome with Growth Hormone Deficiency: Treatment with Growth Hormone

Robinow syndrome and its response to growth hormone treatment: a case report and review of the literature

Contact Info

Product

Resources

About