Saal Greenstein syndrome

Saal Greenstein syndrome is a very rare autosomal recessive genetic disorder characterised by stunted growth, short limbs, microcephaly and anomalous cleavage of the anterior chamber of the eyeSaal Greenstein 综合征是一种极其罕见的常染色体隐性遗传病，以生长迟缓、肢体短小、小头畸形和眼前房异常分裂为特征。

The disorder resembles Robinow syndrome but is distinguished by the anterior chamber anomalies and, in one reported case, hydrocephalus该病类似 Robinow 综合征，但通过眼前房异常和在一例报告中的脑积水区分。

The condition was first described in a consanguineous family, consistent with its autosomal recessive inheritance pattern该病最初在一个近亲家庭中描述，与其常染色体隐性遗传模式一致。

Terminology and classification

• Saal Greenstein syndrome is classified as a rare genetic syndrome with skeletal, ocular and neurological featuresSaal Greenstein 综合征归类为具有骨骼、眼部和神经学特征的罕见遗传综合征。^[1]
• The condition is also known as Robinow-like syndrome because of its resemblance to Robinow syndrome该病也称为 Robinow 样综合征，因其与 Robinow 综合征相似。^[1]
• No specific MONDO or Orphanet identifier has been assigned, and the condition is listed only in the primary literature尚未分配特定的 MONDO 或 Orphanet 标识符，该病仅列于原始文献中。^[1]
• The syndrome is classified as an ultra-rare disorder, and meets the Chinese rare disease criterion of fewer than 140,000 patients nationwide该综合征归类为超罕见病，符合中国罕见病标准（全国患者数少于14万）。^[1]
• The condition is distinguished from Robinow syndrome by the presence of anomalous cleavage of the anterior chamber of the eye该病通过眼前房异常分裂的存在与 Robinow 综合征区分。^[1]
• The disorder is presumed to be inherited in an autosomal recessive pattern, based on its occurrence in consanguineous families根据其在近亲家庭中的发生，该病被推定为常染色体隐性遗传。^[1]

History

• Saal Greenstein syndrome was first described in the medical literature in a report of affected individuals from a consanguineous familySaal Greenstein 综合征在医学文献中首次描述于一例近亲家庭受累个体的报告中。^[1]
• The syndrome was named after the authors who first characterised the condition, following the convention for eponymous genetic syndromes该综合征以首次描述该病的作者命名，遵循了以人名命名遗传综合征的惯例。^[1]
• The resemblance to Robinow syndrome led to the alternative name Robinow-like syndrome, though the conditions are genetically distinct与 Robinow 综合征的相似性导致了别名 Robinow 样综合征，尽管这两种疾病在遗传上不同。^[1]
• Additional case reports have expanded the recognised clinical spectrum, with hydrocephalus being described in one case额外的病例报告扩大了已知临床谱系，在一例中描述了脑积水。^[1]
• The genetic cause of the syndrome has not been identified, and the condition remains a clinical diagnosis based on characteristic features该综合征的遗传原因尚未确定，该病仍是基于特征性表现的临床诊断。^[1]

Epidemiology

• Saal Greenstein syndrome is extremely rare, with only a very small number of cases reported in the medical literatureSaal Greenstein 综合征极其罕见，医学文献中仅报告了极少数病例。^[1]
• The condition has been reported in consanguineous families, consistent with its presumed autosomal recessive inheritance该病已在近亲家庭中报告，与其推定的常染色体隐性遗传一致。^[1]
• Symptoms are present from birth, with growth retardation and skeletal anomalies being apparent early in life症状从出生时即存在，生长迟缓和骨骼异常在生命早期即明显。^[1]
• Both sexes may be affected, and no specific geographic or ethnic predilection has been reported两性均可受累，未报告特定的地理或民族偏好。^[1]
• The condition is associated with significant morbidity from skeletal and ocular anomalies, though lifespan data are limited该病与骨骼和眼部异常的显著发病率相关，尽管寿命数据有限。^[1]

Pathophysiology

• The genetic basis of Saal Greenstein syndrome has not been identified, and the condition is presumed to result from a defect in early skeletal and ocular developmentSaal Greenstein 综合征的遗传基础尚未确定，该病被推定源于早期骨骼和眼部发育缺陷。^[1]
• The short limbs and stunted growth result from abnormal endochondral ossification during skeletal development肢体短小和生长迟缓源于骨骼发育期间软骨内骨化异常。^[1]
• The microcephaly results from abnormal brain growth, which may also contribute to developmental delay小头畸形源于脑生长异常，这也可能导致发育迟缓。^[1]
• The anomalous cleavage of the anterior chamber of the eye results from abnormal development of the anterior segment of the eye眼前房异常分裂源于眼前段发育异常。^[1]
• The resemblance to Robinow syndrome suggests a possible defect in a gene involved in both skeletal and craniofacial development与 Robinow 综合征的相似性提示可能涉及同时参与骨骼和颅面发育的基因缺陷。^[1]
• Hydrocephalus, reported in one case, results from abnormal cerebrospinal fluid dynamics在一例中报告的脑积水源于脑脊液动力学异常。^[1]

Clinical features

• The cardinal features are stunted growth, short limbs, microcephaly and anomalous cleavage of the anterior chamber of the eye主要特征是生长迟缓、肢体短小、小头畸形和眼前房异常分裂。^[1]
• Skeletal features include short limbs and short stature, which may resemble Robinow syndrome but with different proportions骨骼特征包括肢体短小和身材矮小，可能类似 Robinow 综合征但比例不同。^[1]
• Microcephaly presents with a head circumference below the normal range and may be associated with developmental delay小头畸形表现为头围低于正常范围，可能伴有发育迟缓。^[1]
• The anomalous cleavage of the anterior chamber of the eye may cause visual impairment and requires ophthalmological assessment眼前房异常分裂可能导致视力损害，需要眼科评估。^[1]
• Additional features may include facial dysmorphism and other skeletal abnormalities similar to those seen in Robinow syndrome额外特征可能包括面部畸形和类似 Robinow 综合征中所见的其他骨骼异常。^[1]
• Complications include visual impairment, developmental delay and, in rare cases, hydrocephalus并发症包括视力损害、发育迟缓，罕见情况下脑积水。^[1]

Diagnosis

• Diagnosis is based on the characteristic clinical combination of stunted growth, short limbs, microcephaly and anterior chamber anomalies诊断基于生长迟缓、肢体短小、小头畸形和眼前房异常的特征性临床组合。^[1]
• Ophthalmological examination identifies the anomalous cleavage of the anterior chamber and assesses for associated ocular abnormalities眼科检查识别眼前房异常分裂并评估相关眼部异常。^[1]
• Skeletal radiography may show short limbs and other skeletal abnormalities, while brain imaging may identify hydrocephalus骨骼 X 线可能显示肢体短小和其他骨骼异常，脑影像学可识别脑积水。^[1]
• The differential diagnosis includes Robinow syndrome, fetal akinesia deformation sequence and other short limb syndromes鉴别诊断包括 Robinow 综合征、胎儿运动不能变形序列和其他短肢综合征。^[1]
• Genetic testing is not currently available because the causative gene has not been identified由于致病基因尚未确定，目前无法进行基因检测。^[1]
• Genetic counselling is recommended for affected families given the presumed autosomal recessive inheritance鉴于推定的常染色体隐性遗传，建议对受累家庭进行遗传咨询。^[1]

Management

• There is no cure for Saal Greenstein syndrome, and management is supportive and multidisciplinarySaal Greenstein 综合征目前无法治愈，管理是支持性和多学科的。^[1]
• Ophthalmological care is important for managing the anterior chamber anomalies and preventing visual complications眼科护理对于管理眼前房异常和预防视力并发症很重要。^[1]
• Developmental support and therapy are important for managing developmental delay associated with microcephaly发育支持和治疗对于管理与小头畸形相关的发育迟缓很重要。^[1]
• Orthopaedic management may be required for skeletal abnormalities, and surgical intervention may be considered for hydrocephalus骨骼异常可能需要骨科管理，脑积水可考虑手术干预。^[1]
• Multidisciplinary care involving paediatrics, ophthalmology, orthopaedics and neurology is essential涉及儿科、眼科、骨科和神经科的多学科护理至关重要。^[1]
• The prognosis depends on the severity of the skeletal and ocular anomalies, with most patients requiring lifelong specialist care预后取决于骨骼和眼部异常的严重程度，大多数患者需要终身专科护理。^[1]

Research and controversies

• The genetic cause of Saal Greenstein syndrome has not been identified, and the condition remains a clinical diagnosisSaal Greenstein 综合征的遗传原因尚未确定，该病仍是临床诊断。^[1]
• Whether Saal Greenstein syndrome is a distinct entity or a variant of Robinow syndrome is an area of ongoing discussionSaal Greenstein 综合征是独立实体还是 Robinow 综合征的变异型是持续讨论的领域。^[1]
• The long-term outcomes and quality of life for patients with the syndrome are not well characterized given the small number of cases鉴于病例数少，该综合征患者的长期结局和生活质量尚未充分描述。^[1]
• Further research is needed to identify the genetic basis and develop targeted therapies需要进一步研究以确定遗传基础并开发靶向治疗。^[1]
• Improved recognition of the syndrome may lead to the identification of additional cases and a better understanding of its clinical spectrum对该综合征认识的提高可能导致识别更多病例并更好地理解其临床谱系。^[1]

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