Robinow Syndrome with Growth Hormone Deficiency: Treatment with Growth Hormone

Castells, Salvador; Chakurkar, A.; Qazi, Qutub H.; Bastian, William

doi:10.1515/jpem.1999.12.4.565

Cited by 14 publications

(6 citation statements)

References 22 publications

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“…29,30 Patients with RS present several craniofacial and orodental alterations. [12][13][14][15] In this case the syndrome was characterized by the findings that are consistent with other reports in the literature (Table 1).…”

Section: Discussionsupporting

confidence: 86%

“…9 The patient of this case was diagnosed with the recessive form of RS, based on her postnatal characteristics. [10][11][12][20][21][22] Although parental consanguinity has an important role in RS etiology, 7 the patient in this case was born to a nonconsanguineous couple.…”

Section: Discussionmentioning

confidence: 99%

“…6,[7][8][9][10] The signs of both types of RS are similar, but tend to be more severe in the autosomal recessive form, including a more evident dwarfism and typical vertebral and rib segmentation anomalies, such as hemivertebrae with fused ribs leading to kyphoscoliosis. [11][12][13][14][15] Craniofacial findings are more significant in the recessive form whereas orodental features are more common in the dominant form. 16 The prognosis of RS is unfavorable, especially for the patients with heart problems.…”

Section: Introductionmentioning

confidence: 99%

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Orofacial findings and dental care management in a patient with Robinow Syndrome

Sena¹,

Mira²,

Santos³

et al. 2019

CRORJ

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Síndrome de Robinow. Crianças com Deficiência. Atendimento Odontológico. RESUMOIntrodução: A síndrome de Robinow é uma doença genética rara caracterizada por baixa estatura, dismorfismos faciais e anomalias orodentais, genitália subdesenvolvida e falhas no desenvolvimento esquelético. Relato de Caso: Uma paciente de 6 anos com Síndrome de Robinow foi encaminhada ao Centro de Formação de Recursos Humanos Especializado no Atendimento Odontológicode Pacientes com Necessidades Especiais (Ribeirão Preto, São Paulo, Brasil).Na investigação da história médica e ao exame clínico foram observados baixa estatura, dismorfismo facial e genitália hipoplásica. Os achados orofaciais mostraram retrognatismo, hemangioma de linha média de aproximadamente 1 cm de largura com bordas voltadas para cima, língua bífida, anquiloglossia, hipertrofia gengival geral, mordida profunda e apinhamento dentário leve. A anormalidade cardíaca e o atraso no desenvolvimento neuromotor demandaram cuidados individualizados. O tratamento odontológico consistiu em procedimentos preventivos e restauradores para adequar a condição de saúde bucal da paciente. Além disso, foi realizada avaliação ortodôntica e planejamento do tratamento. A paciente está em acompanhamento há seis anos. Conclusão: Anomalias orofaciais e outras alterações encontradas no presente caso contribuíram para complementar os achados orofaciais na literatura e auxiliar no diagnóstico da síndrome. Neste caso, um plano de tratamento integral e equipe multiprofissional foram essenciais para resgatar a saúde bucal e propiciar melhor qualidade de vida à paciente.

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Section: Discussionsupporting

confidence: 86%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Orofacial findings and dental care management in a patient with Robinow Syndrome

Sena¹,

Mira²,

Santos³

et al. 2019

CRORJ

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“…The prognosis for Robinow syndrome is good with more than 80% of patients having normal intelligence [ 11 ] [ 12 ]. A fetal ultrasound can provide a parental diagnosis at 19 weeks of pregnancy.…”

Section: Discussionmentioning

confidence: 99%

Surgical Management of Facial Features of Robinow Syndrome: A Case Report

Mossaad¹,

Abdelrahman²,

Ahmady³

2018

Open Access Maced J Med Sci

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BACKGROUND:Robinow Syndrome is an extremely rare genetic disorder characterised by abnormalities in head, face and external genitalia. This disorder exists in dominant pattern with moderate symptoms and recessive pattern with more physical and skeletal abnormalities. It was first introduced by Menihard Robinow in 1969. It was related to chromosome 9q22 ROR2 gene related to bone and cartilage growth aspects.CASE PRESENTATION:A 17-year-old Egyptian male presented to National Research Centre Orodental genetics Clinic with typical features of short stature and facial dysmorphism weighted 50 Kg and measured 150 cm height complaining of facial dis figurement. There was no significant prenatal history, and family history was negative for congenital disabilities and genetic disorders. Clinical examination revealed macrocephaly and special facial features as prominent forehead, deformed ear pinna, hypertelorism, flat nasal tongue tie, deficient malar bone, bow-shaped upper and lower lips and dimpled chin. Orally the patient suffered from tonetie, gingival hypertrophy and dental malalignment. The orthopantomogram showed multiple impacted teeth. The physical examination revealed that the patient had deformed spine, short limbs with ectrodactyly, micropenis & hypospadias. Surgical management included correction of midface deficiency with zygomatic augmentation, closed rhinoplasty for the broad nose, lips muscles release and tongue tie relief. The patient is currently undergoing orthodontic treatment for his teeth.CONCLUSION:Improvement of facial features and a good psychological impact on the patient and his family.

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“…Growth hormone deficiency has been identified as a possible etiology of short stature, resulting in lower bone age than chronological age, shortening of limbs, and slower growth rate compared to healthy children of the same age 6 .…”

Section: Introductionmentioning

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

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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.

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Robinow Syndrome with Growth Hormone Deficiency: Treatment with Growth Hormone

Cited by 14 publications

References 22 publications

Orofacial findings and dental care management in a patient with Robinow Syndrome

Orofacial findings and dental care management in a patient with Robinow Syndrome

Surgical Management of Facial Features of Robinow Syndrome: A Case Report

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

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